Canonical Allele Identifier: CA2649314842

Gene: NPHS2 AXDND1

Linked Data

• gnomAD v4: 1-179551358-A-AGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551358_179551359insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG , CM000663.2:g.179551358_179551359insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG	GRCh38
NC_000001.10:g.179520493_179520494insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG , CM000663.1:g.179520493_179520494insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG	GRCh37
NC_000001.9:g.177787116_177787117insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG	NCBI36
NG_007535.1:g.29591_29592insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC , LRG_887:g.29591_29592insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC
NG_033075.1:g.190639_190640insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.966_967insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
ENST00000367618.8:c.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3154_3032-3153insGATGAGTCACGGAAACATG...
ENST00000367615.8:c.966_967insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
ENST00000367616.4:c.762_763insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
ENST00000367618.7:c.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	ENSP00000356590.3:n.3032-3154_3032-3153insGATGAGTCACGGAAACATG...
ENST00000434088.1:c.2612-3154_2612-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	ENSP00000391716.1:n.2612-3154_2612-3153insGATGAGTCACGGAAACATG...
ENST00000457238.6:c.*1011-3154_*1011-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	ENSP00000416712.3:n.*1011-3154_*1011-3153insGATGAGTCACGGAAACA...
ENST00000484455.1:n.471-3154_471-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)
ENST00000484883.1:n.911-3154_911-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)
ENST00000489080.1:n.292_293insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)
ENST00000511157.5:c.*1301-3154_*1301-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	ENSP00000424373.1:n.*1301-3154_*1301-3153insGATGAGTCACGGAAACA...
ENST00000617277.4:c.*1207-3154_*1207-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	ENSP00000482167.1:n.*1207-3154_*1207-3153insGATGAGTCACGGAAACA...
NM_001297575.1:c.762_763insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
NM_014625.3:c.966_967insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC , LRG_887t1:c.966_967insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
NM_144696.5:c.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	NP_653297.3:n.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCT...
NR_073544.1:n.3152-3154_3152-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)
XM_005245483.2:c.789_790insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
XM_011509165.1:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507467.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509166.1:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507468.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509167.1:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507469.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509168.1:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507470.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509169.1:c.2975-3154_2975-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507471.1:n.2975-3154_2975-3153insGATGAGTCACGGAAACATGTTG...
XM_011509170.1:c.2930-3154_2930-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507472.1:n.2930-3154_2930-3153insGATGAGTCACGGAAACATGTTG...
XM_011509171.1:c.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507473.1:n.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTG...
XM_011509172.1:c.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507474.1:n.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTG...
XM_011509173.1:c.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507475.1:n.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTG...
XM_011509174.1:c.2816-3154_2816-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507476.1:n.2816-3154_2816-3153insGATGAGTCACGGAAACATGTTG...
XM_011509175.1:c.2810-3154_2810-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507477.1:n.2810-3154_2810-3153insGATGAGTCACGGAAACATGTTG...
XM_011509176.1:c.2741-3154_2741-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507478.1:n.2741-3154_2741-3153insGATGAGTCACGGAAACATGTTG...
XM_011509179.1:c.2402-3154_2402-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507481.1:n.2402-3154_2402-3153insGATGAGTCACGGAAACATGTTG...
XM_011509181.1:c.1961-3154_1961-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507483.1:n.1961-3154_1961-3153insGATGAGTCACGGAAACATGTTG...
XM_005245483.3:c.789_790insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
XM_011509166.3:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507468.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509167.3:c.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507469.1:n.3038-3154_3038-3153insGATGAGTCACGGAAACATGTTG...
XM_011509179.2:c.2402-3154_2402-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507481.1:n.2402-3154_2402-3153insGATGAGTCACGGAAACATGTTG...
XM_011509181.2:c.1961-3154_1961-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_011507483.1:n.1961-3154_1961-3153insGATGAGTCACGGAAACATGTTG...
XM_017000257.2:c.2297-3154_2297-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_016855746.1:n.2297-3154_2297-3153insGATGAGTCACGGAAACATGTTG...
XM_017000258.2:c.2159-3154_2159-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_016855747.1:n.2159-3154_2159-3153insGATGAGTCACGGAAACATGTTG...
XM_017002298.1:c.633_634insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
XM_024453104.1:c.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_024308872.1:n.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTG...
XM_024453107.1:c.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)	XP_024308875.1:n.2912-3154_2912-3153insGATGAGTCACGGAAACATGTTG...
NM_144696.6:c.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1) MANE Select	NP_653297.3:n.3032-3154_3032-3153insGATGAGTCACGGAAACATGTTGTCT...
NM_001297575.2:c.762_763insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
NM_014625.4:c.966_967insCAGTGAAATGATGTAATGACAGAGAAGGCAGACAACATGTTTCCGTGACTCATC (NPHS2)
NR_073544.2:n.3080-3154_3080-3153insGATGAGTCACGGAAACATGTTGTCTGCCTTCTCTGTCATTACATCATTTCACTG (AXDND1)