Canonical Allele Identifier: CA2573131324

Gene: NPHS2 AXDND1

Linked Data

• ClinVar Variation Id: 1344843
• ClinVar RCV Id: RCV001849845
• dbSNP Id: rs2125764106

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551265_179551266del , CM000663.2:g.179551265_179551266del	GRCh38
NC_000001.10:g.179520400_179520401del , CM000663.1:g.179520400_179520401del	GRCh37
NC_000001.9:g.177787023_177787024del	NCBI36
NG_007535.1:g.29684_29685del , LRG_887:g.29684_29685del
NG_033075.1:g.190546_190547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.1059_1060del (NPHS2) MANE Select	ENSP00000356587.4:p.Ser354GlnfsTer17
ENST00000367618.8:c.3032-3247_3032-3246del (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3247_3032-3246de...
ENST00000367615.8:c.1059_1060del (NPHS2)	ENSP00000356587.4:p.Ser354GlnfsTer17
ENST00000367616.4:c.855_856del (NPHS2)	ENSP00000356588.4:p.Ser286GlnfsTer17
ENST00000367618.7:c.3032-3247_3032-3246del (AXDND1)	ENSP00000356590.3:n.3032-3247_3032-3246de...
ENST00000434088.1:c.2612-3247_2612-3246del (AXDND1)	ENSP00000391716.1:n.2612-3247_2612-3246de...
ENST00000457238.6:c.*1011-3247_*1011-3246del (AXDND1)	ENSP00000416712.3:n.*1011-3247_*1011-3246...
ENST00000484455.1:n.471-3247_471-3246del (AXDND1)
ENST00000484883.1:n.911-3247_911-3246del (AXDND1)
ENST00000489080.1:n.199_200del (AXDND1)
ENST00000511157.5:c.*1301-3247_*1301-3246del (AXDND1)	ENSP00000424373.1:n.*1301-3247_*1301-3246...
ENST00000617277.4:c.*1207-3247_*1207-3246del (AXDND1)	ENSP00000482167.1:n.*1207-3247_*1207-3246...
NM_001297575.1:c.855_856del (NPHS2)	NP_001284504.1:p.Ser286GlnfsTer17
NM_014625.3:c.1059_1060del , LRG_887t1:c.1059_1060del (NPHS2)	NP_055440.1:p.Ser354GlnfsTer17
NM_144696.5:c.3032-3247_3032-3246del (AXDND1)	NP_653297.3:n.3032-3247_3032-3246del
NR_073544.1:n.3152-3247_3152-3246del (AXDND1)
XM_005245483.2:c.882_883del (NPHS2)	XP_005245540.1:p.Ser295GlnfsTer17
XM_011509165.1:c.3038-3247_3038-3246del (AXDND1)	XP_011507467.1:n.3038-3247_3038-3246del
XM_011509166.1:c.3038-3247_3038-3246del (AXDND1)	XP_011507468.1:n.3038-3247_3038-3246del
XM_011509167.1:c.3038-3247_3038-3246del (AXDND1)	XP_011507469.1:n.3038-3247_3038-3246del
XM_011509168.1:c.3038-3247_3038-3246del (AXDND1)	XP_011507470.1:n.3038-3247_3038-3246del
XM_011509169.1:c.2975-3247_2975-3246del (AXDND1)	XP_011507471.1:n.2975-3247_2975-3246del
XM_011509170.1:c.2930-3247_2930-3246del (AXDND1)	XP_011507472.1:n.2930-3247_2930-3246del
XM_011509171.1:c.2912-3247_2912-3246del (AXDND1)	XP_011507473.1:n.2912-3247_2912-3246del
XM_011509172.1:c.2912-3247_2912-3246del (AXDND1)	XP_011507474.1:n.2912-3247_2912-3246del
XM_011509173.1:c.2912-3247_2912-3246del (AXDND1)	XP_011507475.1:n.2912-3247_2912-3246del
XM_011509174.1:c.2816-3247_2816-3246del (AXDND1)	XP_011507476.1:n.2816-3247_2816-3246del
XM_011509175.1:c.2810-3247_2810-3246del (AXDND1)	XP_011507477.1:n.2810-3247_2810-3246del
XM_011509176.1:c.2741-3247_2741-3246del (AXDND1)	XP_011507478.1:n.2741-3247_2741-3246del
XM_011509179.1:c.2402-3247_2402-3246del (AXDND1)	XP_011507481.1:n.2402-3247_2402-3246del
XM_011509181.1:c.1961-3247_1961-3246del (AXDND1)	XP_011507483.1:n.1961-3247_1961-3246del
XM_005245483.3:c.882_883del (NPHS2)	XP_005245540.1:p.Ser295GlnfsTer17
XM_011509166.3:c.3038-3247_3038-3246del (AXDND1)	XP_011507468.1:n.3038-3247_3038-3246del
XM_011509167.3:c.3038-3247_3038-3246del (AXDND1)	XP_011507469.1:n.3038-3247_3038-3246del
XM_011509179.2:c.2402-3247_2402-3246del (AXDND1)	XP_011507481.1:n.2402-3247_2402-3246del
XM_011509181.2:c.1961-3247_1961-3246del (AXDND1)	XP_011507483.1:n.1961-3247_1961-3246del
XM_017000257.2:c.2297-3247_2297-3246del (AXDND1)	XP_016855746.1:n.2297-3247_2297-3246del
XM_017000258.2:c.2159-3247_2159-3246del (AXDND1)	XP_016855747.1:n.2159-3247_2159-3246del
XM_017002298.1:c.726_727del (NPHS2)	XP_016857787.1:p.Ser243GlnfsTer17
XM_024453104.1:c.2912-3247_2912-3246del (AXDND1)	XP_024308872.1:n.2912-3247_2912-3246del
XM_024453107.1:c.2912-3247_2912-3246del (AXDND1)	XP_024308875.1:n.2912-3247_2912-3246del
NM_144696.6:c.3032-3247_3032-3246del (AXDND1) MANE Select	NP_653297.3:n.3032-3247_3032-3246del
NM_001297575.2:c.855_856del (NPHS2)	NP_001284504.1:p.Ser286GlnfsTer17
NM_014625.4:c.1059_1060del (NPHS2) MANE Select	NP_055440.1:p.Ser354GlnfsTer17
NR_073544.2:n.3080-3247_3080-3246del (AXDND1)