Canonical Allele Identifier: CA2649314830

Gene: NPHS2 AXDND1

Linked Data

• gnomAD v4: 1-179551140-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551140_179551141insGCC , CM000663.2:g.179551140_179551141insGCC	GRCh38
NC_000001.10:g.179520275_179520276insGCC , CM000663.1:g.179520275_179520276insGCC	GRCh37
NC_000001.9:g.177786898_177786899insGCC	NCBI36
NG_007535.1:g.29809_29810insGGC , LRG_887:g.29809_29810insGGC
NG_033075.1:g.190421_190422insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.*32_*33insGGC (NPHS2) MANE Select	ENSP00000356587.4:n.*32_*33insGGC
ENST00000367618.8:c.3032-3372_3032-3371insGCC (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3372_3032-3371insGCC
ENST00000367615.8:c.*32_*33insGGC (NPHS2)	ENSP00000356587.4:n.*32_*33insGGC
ENST00000367616.4:c.*32_*33insGGC (NPHS2)	ENSP00000356588.4:n.*32_*33insGGC
ENST00000367618.7:c.3032-3372_3032-3371insGCC (AXDND1)	ENSP00000356590.3:n.3032-3372_3032-3371insGCC
ENST00000434088.1:c.2612-3372_2612-3371insGCC (AXDND1)	ENSP00000391716.1:n.2612-3372_2612-3371insGCC
ENST00000457238.6:c.*1011-3372_*1011-3371insGCC (AXDND1)	ENSP00000416712.3:n.*1011-3372_*1011-3371insGCC
ENST00000484455.1:n.471-3372_471-3371insGCC (AXDND1)
ENST00000484883.1:n.911-3372_911-3371insGCC (AXDND1)
ENST00000489080.1:n.74_75insGCC (AXDND1)
ENST00000511157.5:c.*1301-3372_*1301-3371insGCC (AXDND1)	ENSP00000424373.1:n.*1301-3372_*1301-3371insGCC
ENST00000617277.4:c.*1207-3372_*1207-3371insGCC (AXDND1)	ENSP00000482167.1:n.*1207-3372_*1207-3371insGCC
NM_001297575.1:c.*32_*33insGGC (NPHS2)	NP_001284504.1:n.*32_*33insGGC
NM_014625.3:c.*32_*33insGGC , LRG_887t1:c.*32_*33insGGC (NPHS2)	NP_055440.1:n.*32_*33insGGC
NM_144696.5:c.3032-3372_3032-3371insGCC (AXDND1)	NP_653297.3:n.3032-3372_3032-3371insGCC
NR_073544.1:n.3152-3372_3152-3371insGCC (AXDND1)
XM_005245483.2:c.*32_*33insGGC (NPHS2)	XP_005245540.1:n.*32_*33insGGC
XM_011509165.1:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507467.1:n.3038-3372_3038-3371insGCC
XM_011509166.1:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507468.1:n.3038-3372_3038-3371insGCC
XM_011509167.1:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507469.1:n.3038-3372_3038-3371insGCC
XM_011509168.1:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507470.1:n.3038-3372_3038-3371insGCC
XM_011509169.1:c.2975-3372_2975-3371insGCC (AXDND1)	XP_011507471.1:n.2975-3372_2975-3371insGCC
XM_011509170.1:c.2930-3372_2930-3371insGCC (AXDND1)	XP_011507472.1:n.2930-3372_2930-3371insGCC
XM_011509171.1:c.2912-3372_2912-3371insGCC (AXDND1)	XP_011507473.1:n.2912-3372_2912-3371insGCC
XM_011509172.1:c.2912-3372_2912-3371insGCC (AXDND1)	XP_011507474.1:n.2912-3372_2912-3371insGCC
XM_011509173.1:c.2912-3372_2912-3371insGCC (AXDND1)	XP_011507475.1:n.2912-3372_2912-3371insGCC
XM_011509174.1:c.2816-3372_2816-3371insGCC (AXDND1)	XP_011507476.1:n.2816-3372_2816-3371insGCC
XM_011509175.1:c.2810-3372_2810-3371insGCC (AXDND1)	XP_011507477.1:n.2810-3372_2810-3371insGCC
XM_011509176.1:c.2741-3372_2741-3371insGCC (AXDND1)	XP_011507478.1:n.2741-3372_2741-3371insGCC
XM_011509179.1:c.2402-3372_2402-3371insGCC (AXDND1)	XP_011507481.1:n.2402-3372_2402-3371insGCC
XM_011509181.1:c.1961-3372_1961-3371insGCC (AXDND1)	XP_011507483.1:n.1961-3372_1961-3371insGCC
XM_005245483.3:c.*32_*33insGGC (NPHS2)	XP_005245540.1:n.*32_*33insGGC
XM_011509166.3:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507468.1:n.3038-3372_3038-3371insGCC
XM_011509167.3:c.3038-3372_3038-3371insGCC (AXDND1)	XP_011507469.1:n.3038-3372_3038-3371insGCC
XM_011509179.2:c.2402-3372_2402-3371insGCC (AXDND1)	XP_011507481.1:n.2402-3372_2402-3371insGCC
XM_011509181.2:c.1961-3372_1961-3371insGCC (AXDND1)	XP_011507483.1:n.1961-3372_1961-3371insGCC
XM_017000257.2:c.2297-3372_2297-3371insGCC (AXDND1)	XP_016855746.1:n.2297-3372_2297-3371insGCC
XM_017000258.2:c.2159-3372_2159-3371insGCC (AXDND1)	XP_016855747.1:n.2159-3372_2159-3371insGCC
XM_017002298.1:c.*32_*33insGGC (NPHS2)	XP_016857787.1:n.*32_*33insGGC
XM_024453104.1:c.2912-3372_2912-3371insGCC (AXDND1)	XP_024308872.1:n.2912-3372_2912-3371insGCC
XM_024453107.1:c.2912-3372_2912-3371insGCC (AXDND1)	XP_024308875.1:n.2912-3372_2912-3371insGCC
NM_144696.6:c.3032-3372_3032-3371insGCC (AXDND1) MANE Select	NP_653297.3:n.3032-3372_3032-3371insGCC
NM_001297575.2:c.*32_*33insGGC (NPHS2)	NP_001284504.1:n.*32_*33insGGC
NM_014625.4:c.*32_*33insGGC (NPHS2) MANE Select	NP_055440.1:n.*32_*33insGGC
NR_073544.2:n.3080-3372_3080-3371insGCC (AXDND1)