Canonical Allele Identifier: CA891813344

Gene: NPHS2 AXDND1

Linked Data

• ClinVar Variation Id: 974486
• ClinVar RCV Id: RCV001281253
• dbSNP Id: rs1427261340
• MyVariant Identifiers: chr1:g.179520505_179520507del (hg19) ; chr1:g.179551370_179551372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551371_179551373del , CM000663.2:g.179551371_179551373del	GRCh38
NC_000001.10:g.179520506_179520508del , CM000663.1:g.179520506_179520508del	GRCh37
NC_000001.9:g.177787129_177787131del	NCBI36
NG_007535.1:g.29578_29580del , LRG_887:g.29578_29580del
NG_033075.1:g.190652_190654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.953_955del (NPHS2) MANE Select	ENSP00000356587.4:p.Ala318del
ENST00000367618.8:c.3032-3141_3032-3139del (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3141_3032-3139del
ENST00000367615.8:c.953_955del (NPHS2)	ENSP00000356587.4:p.Ala318del
ENST00000367616.4:c.749_751del (NPHS2)	ENSP00000356588.4:p.Ala250del
ENST00000367618.7:c.3032-3141_3032-3139del (AXDND1)	ENSP00000356590.3:n.3032-3141_3032-3139del
ENST00000434088.1:c.2612-3141_2612-3139del (AXDND1)	ENSP00000391716.1:n.2612-3141_2612-3139del
ENST00000457238.6:c.*1011-3141_*1011-3139del (AXDND1)	ENSP00000416712.3:n.*1011-3141_*1011-3139del
ENST00000484455.1:n.471-3141_471-3139del (AXDND1)
ENST00000484883.1:n.911-3141_911-3139del (AXDND1)
ENST00000489080.1:n.305_307del (AXDND1)
ENST00000511157.5:c.*1301-3141_*1301-3139del (AXDND1)	ENSP00000424373.1:n.*1301-3141_*1301-3139del
ENST00000617277.4:c.*1207-3141_*1207-3139del (AXDND1)	ENSP00000482167.1:n.*1207-3141_*1207-3139del
NM_001297575.1:c.749_751del (NPHS2)	NP_001284504.1:p.Ala250del
NM_014625.3:c.953_955del , LRG_887t1:c.953_955del (NPHS2)	NP_055440.1:p.Ala318del
NM_144696.5:c.3032-3141_3032-3139del (AXDND1)	NP_653297.3:n.3032-3141_3032-3139del
NR_073544.1:n.3152-3141_3152-3139del (AXDND1)
XM_005245483.2:c.776_778del (NPHS2)	XP_005245540.1:p.Ala259del
XM_011509165.1:c.3038-3141_3038-3139del (AXDND1)	XP_011507467.1:n.3038-3141_3038-3139del
XM_011509166.1:c.3038-3141_3038-3139del (AXDND1)	XP_011507468.1:n.3038-3141_3038-3139del
XM_011509167.1:c.3038-3141_3038-3139del (AXDND1)	XP_011507469.1:n.3038-3141_3038-3139del
XM_011509168.1:c.3038-3141_3038-3139del (AXDND1)	XP_011507470.1:n.3038-3141_3038-3139del
XM_011509169.1:c.2975-3141_2975-3139del (AXDND1)	XP_011507471.1:n.2975-3141_2975-3139del
XM_011509170.1:c.2930-3141_2930-3139del (AXDND1)	XP_011507472.1:n.2930-3141_2930-3139del
XM_011509171.1:c.2912-3141_2912-3139del (AXDND1)	XP_011507473.1:n.2912-3141_2912-3139del
XM_011509172.1:c.2912-3141_2912-3139del (AXDND1)	XP_011507474.1:n.2912-3141_2912-3139del
XM_011509173.1:c.2912-3141_2912-3139del (AXDND1)	XP_011507475.1:n.2912-3141_2912-3139del
XM_011509174.1:c.2816-3141_2816-3139del (AXDND1)	XP_011507476.1:n.2816-3141_2816-3139del
XM_011509175.1:c.2810-3141_2810-3139del (AXDND1)	XP_011507477.1:n.2810-3141_2810-3139del
XM_011509176.1:c.2741-3141_2741-3139del (AXDND1)	XP_011507478.1:n.2741-3141_2741-3139del
XM_011509179.1:c.2402-3141_2402-3139del (AXDND1)	XP_011507481.1:n.2402-3141_2402-3139del
XM_011509181.1:c.1961-3141_1961-3139del (AXDND1)	XP_011507483.1:n.1961-3141_1961-3139del
XM_005245483.3:c.776_778del (NPHS2)	XP_005245540.1:p.Ala259del
XM_011509166.3:c.3038-3141_3038-3139del (AXDND1)	XP_011507468.1:n.3038-3141_3038-3139del
XM_011509167.3:c.3038-3141_3038-3139del (AXDND1)	XP_011507469.1:n.3038-3141_3038-3139del
XM_011509179.2:c.2402-3141_2402-3139del (AXDND1)	XP_011507481.1:n.2402-3141_2402-3139del
XM_011509181.2:c.1961-3141_1961-3139del (AXDND1)	XP_011507483.1:n.1961-3141_1961-3139del
XM_017000257.2:c.2297-3141_2297-3139del (AXDND1)	XP_016855746.1:n.2297-3141_2297-3139del
XM_017000258.2:c.2159-3141_2159-3139del (AXDND1)	XP_016855747.1:n.2159-3141_2159-3139del
XM_017002298.1:c.620_622del (NPHS2)	XP_016857787.1:p.Ala207del
XM_024453104.1:c.2912-3141_2912-3139del (AXDND1)	XP_024308872.1:n.2912-3141_2912-3139del
XM_024453107.1:c.2912-3141_2912-3139del (AXDND1)	XP_024308875.1:n.2912-3141_2912-3139del
NM_144696.6:c.3032-3141_3032-3139del (AXDND1) MANE Select	NP_653297.3:n.3032-3141_3032-3139del
NM_001297575.2:c.749_751del (NPHS2)	NP_001284504.1:p.Ala250del
NM_014625.4:c.953_955del (NPHS2) MANE Select	NP_055440.1:p.Ala318del
NR_073544.2:n.3080-3141_3080-3139del (AXDND1)