Canonical Allele Identifier: CA527196878

Gene: NPHS2 AXDND1

Linked Data

• ClinVar Variation Id: 1625754
• ClinVar RCV Id: RCV002109204
• dbSNP Id: rs1230101146
• gnomAD v2: 1-179521821-AAAAG-A
• gnomAD v3: 1-179552686-AAAAG-A
• gnomAD v4: 1-179552686-AAAAG-A
• MyVariant Identifiers: chr1:g.179521822_179521825del (hg19) ; chr1:g.179552687_179552690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179552693_179552696del , CM000663.2:g.179552693_179552696del	GRCh38
NC_000001.10:g.179521828_179521831del , CM000663.1:g.179521828_179521831del	GRCh37
NC_000001.9:g.177788451_177788454del	NCBI36
NG_007535.1:g.28260_28263del , LRG_887:g.28260_28263del
NG_033075.1:g.191974_191977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.795-9_795-6del (NPHS2) MANE Select	ENSP00000356587.4:n.795-9_795-6del
ENST00000367618.8:c.3032-1819_3032-1816del (AXDND1) MANE Select	ENSP00000356590.3:n.3032-1819_3032-1816del
ENST00000367615.8:c.795-9_795-6del (NPHS2)	ENSP00000356587.4:n.795-9_795-6del
ENST00000367616.4:c.591-9_591-6del (NPHS2)	ENSP00000356588.4:n.591-9_591-6del
ENST00000367618.7:c.3032-1819_3032-1816del (AXDND1)	ENSP00000356590.3:n.3032-1819_3032-1816del
ENST00000434088.1:c.2612-1819_2612-1816del (AXDND1)	ENSP00000391716.1:n.2612-1819_2612-1816del
ENST00000457238.6:c.*1011-1819_*1011-1816del (AXDND1)	ENSP00000416712.3:n.*1011-1819_*1011-1816del
ENST00000484455.1:n.471-1819_471-1816del (AXDND1)
ENST00000484883.1:n.911-1819_911-1816del (AXDND1)
ENST00000489080.1:n.1627_1630del (AXDND1)
ENST00000511157.5:c.*1301-1819_*1301-1816del (AXDND1)	ENSP00000424373.1:n.*1301-1819_*1301-1816del
ENST00000617277.4:c.*1207-1819_*1207-1816del (AXDND1)	ENSP00000482167.1:n.*1207-1819_*1207-1816del
NM_001297575.1:c.591-9_591-6del (NPHS2)	NP_001284504.1:n.591-9_591-6del
NM_014625.3:c.795-9_795-6del , LRG_887t1:c.795-9_795-6del (NPHS2)	NP_055440.1:n.795-9_795-6del
NM_144696.5:c.3032-1819_3032-1816del (AXDND1)	NP_653297.3:n.3032-1819_3032-1816del
NR_073544.1:n.3152-1819_3152-1816del (AXDND1)
XM_005245483.2:c.618-9_618-6del (NPHS2)	XP_005245540.1:n.618-9_618-6del
XM_006711529.2:c.795-9_795-6del (NPHS2)	XP_006711592.1:n.795-9_795-6del
XM_011509165.1:c.3038-1819_3038-1816del (AXDND1)	XP_011507467.1:n.3038-1819_3038-1816del
XM_011509166.1:c.3038-1819_3038-1816del (AXDND1)	XP_011507468.1:n.3038-1819_3038-1816del
XM_011509167.1:c.3038-1819_3038-1816del (AXDND1)	XP_011507469.1:n.3038-1819_3038-1816del
XM_011509168.1:c.3038-1819_3038-1816del (AXDND1)	XP_011507470.1:n.3038-1819_3038-1816del
XM_011509169.1:c.2975-1819_2975-1816del (AXDND1)	XP_011507471.1:n.2975-1819_2975-1816del
XM_011509170.1:c.2930-1819_2930-1816del (AXDND1)	XP_011507472.1:n.2930-1819_2930-1816del
XM_011509171.1:c.2912-1819_2912-1816del (AXDND1)	XP_011507473.1:n.2912-1819_2912-1816del
XM_011509172.1:c.2912-1819_2912-1816del (AXDND1)	XP_011507474.1:n.2912-1819_2912-1816del
XM_011509173.1:c.2912-1819_2912-1816del (AXDND1)	XP_011507475.1:n.2912-1819_2912-1816del
XM_011509174.1:c.2816-1819_2816-1816del (AXDND1)	XP_011507476.1:n.2816-1819_2816-1816del
XM_011509175.1:c.2810-1819_2810-1816del (AXDND1)	XP_011507477.1:n.2810-1819_2810-1816del
XM_011509176.1:c.2741-1819_2741-1816del (AXDND1)	XP_011507478.1:n.2741-1819_2741-1816del
XM_011509179.1:c.2402-1819_2402-1816del (AXDND1)	XP_011507481.1:n.2402-1819_2402-1816del
XM_011509181.1:c.1961-1819_1961-1816del (AXDND1)	XP_011507483.1:n.1961-1819_1961-1816del
XM_005245483.3:c.618-9_618-6del (NPHS2)	XP_005245540.1:n.618-9_618-6del
XM_011509166.3:c.3038-1819_3038-1816del (AXDND1)	XP_011507468.1:n.3038-1819_3038-1816del
XM_011509167.3:c.3038-1819_3038-1816del (AXDND1)	XP_011507469.1:n.3038-1819_3038-1816del
XM_011509179.2:c.2402-1819_2402-1816del (AXDND1)	XP_011507481.1:n.2402-1819_2402-1816del
XM_011509181.2:c.1961-1819_1961-1816del (AXDND1)	XP_011507483.1:n.1961-1819_1961-1816del
XM_017000257.2:c.2297-1819_2297-1816del (AXDND1)	XP_016855746.1:n.2297-1819_2297-1816del
XM_017000258.2:c.2159-1819_2159-1816del (AXDND1)	XP_016855747.1:n.2159-1819_2159-1816del
XM_017002298.1:c.462-9_462-6del (NPHS2)	XP_016857787.1:n.462-9_462-6del
XM_017002299.1:c.535-9_535-6del (NPHS2)	XP_016857788.1:n.535-9_535-6del
XM_024453104.1:c.2912-1819_2912-1816del (AXDND1)	XP_024308872.1:n.2912-1819_2912-1816del
XM_024453107.1:c.2912-1819_2912-1816del (AXDND1)	XP_024308875.1:n.2912-1819_2912-1816del
NM_144696.6:c.3032-1819_3032-1816del (AXDND1) MANE Select	NP_653297.3:n.3032-1819_3032-1816del
NM_001297575.2:c.591-9_591-6del (NPHS2)	NP_001284504.1:n.591-9_591-6del
NM_014625.4:c.795-9_795-6del (NPHS2) MANE Select	NP_055440.1:n.795-9_795-6del
NR_073544.2:n.3080-1819_3080-1816del (AXDND1)