Canonical Allele Identifier: CA913071839

Gene: NPHS2 AXDND1

Linked Data

• MyVariant Identifiers: chr1:g.179520436_179520448del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551302_179551314del , CM000663.2:g.179551302_179551314del	GRCh38
NC_000001.10:g.179520437_179520449del , CM000663.1:g.179520437_179520449del	GRCh37
NC_000001.9:g.177787060_177787072del	NCBI36
NG_007535.1:g.29637_29649del , LRG_887:g.29637_29649del
NG_033075.1:g.190583_190595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.1012_1024del (NPHS2) MANE Select	ENSP00000356587.4:p.Val338CysfsTer6
ENST00000367618.8:c.3032-3210_3032-3198del (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3210_3032-3198del
ENST00000367615.8:c.1012_1024del (NPHS2)	ENSP00000356587.4:p.Val338CysfsTer6
ENST00000367616.4:c.808_820del (NPHS2)	ENSP00000356588.4:p.Val270CysfsTer6
ENST00000367618.7:c.3032-3210_3032-3198del (AXDND1)	ENSP00000356590.3:n.3032-3210_3032-3198del
ENST00000434088.1:c.2612-3210_2612-3198del (AXDND1)	ENSP00000391716.1:n.2612-3210_2612-3198del
ENST00000457238.6:c.*1011-3210_*1011-3198del (AXDND1)	ENSP00000416712.3:n.*1011-3210_*1011-3198del
ENST00000484455.1:n.471-3210_471-3198del (AXDND1)
ENST00000484883.1:n.911-3210_911-3198del (AXDND1)
ENST00000489080.1:n.236_248del (AXDND1)
ENST00000511157.5:c.*1301-3210_*1301-3198del (AXDND1)	ENSP00000424373.1:n.*1301-3210_*1301-3198del
ENST00000617277.4:c.*1207-3210_*1207-3198del (AXDND1)	ENSP00000482167.1:n.*1207-3210_*1207-3198del
NM_001297575.1:c.808_820del (NPHS2)	NP_001284504.1:p.Val270CysfsTer6
NM_014625.3:c.1012_1024del , LRG_887t1:c.1012_1024del (NPHS2)	NP_055440.1:p.Val338CysfsTer6
NM_144696.5:c.3032-3210_3032-3198del (AXDND1)	NP_653297.3:n.3032-3210_3032-3198del
NR_073544.1:n.3152-3210_3152-3198del (AXDND1)
XM_005245483.2:c.835_847del (NPHS2)	XP_005245540.1:p.Val279CysfsTer6
XM_011509165.1:c.3038-3210_3038-3198del (AXDND1)	XP_011507467.1:n.3038-3210_3038-3198del
XM_011509166.1:c.3038-3210_3038-3198del (AXDND1)	XP_011507468.1:n.3038-3210_3038-3198del
XM_011509167.1:c.3038-3210_3038-3198del (AXDND1)	XP_011507469.1:n.3038-3210_3038-3198del
XM_011509168.1:c.3038-3210_3038-3198del (AXDND1)	XP_011507470.1:n.3038-3210_3038-3198del
XM_011509169.1:c.2975-3210_2975-3198del (AXDND1)	XP_011507471.1:n.2975-3210_2975-3198del
XM_011509170.1:c.2930-3210_2930-3198del (AXDND1)	XP_011507472.1:n.2930-3210_2930-3198del
XM_011509171.1:c.2912-3210_2912-3198del (AXDND1)	XP_011507473.1:n.2912-3210_2912-3198del
XM_011509172.1:c.2912-3210_2912-3198del (AXDND1)	XP_011507474.1:n.2912-3210_2912-3198del
XM_011509173.1:c.2912-3210_2912-3198del (AXDND1)	XP_011507475.1:n.2912-3210_2912-3198del
XM_011509174.1:c.2816-3210_2816-3198del (AXDND1)	XP_011507476.1:n.2816-3210_2816-3198del
XM_011509175.1:c.2810-3210_2810-3198del (AXDND1)	XP_011507477.1:n.2810-3210_2810-3198del
XM_011509176.1:c.2741-3210_2741-3198del (AXDND1)	XP_011507478.1:n.2741-3210_2741-3198del
XM_011509179.1:c.2402-3210_2402-3198del (AXDND1)	XP_011507481.1:n.2402-3210_2402-3198del
XM_011509181.1:c.1961-3210_1961-3198del (AXDND1)	XP_011507483.1:n.1961-3210_1961-3198del
XM_005245483.3:c.835_847del (NPHS2)	XP_005245540.1:p.Val279CysfsTer6
XM_011509166.3:c.3038-3210_3038-3198del (AXDND1)	XP_011507468.1:n.3038-3210_3038-3198del
XM_011509167.3:c.3038-3210_3038-3198del (AXDND1)	XP_011507469.1:n.3038-3210_3038-3198del
XM_011509179.2:c.2402-3210_2402-3198del (AXDND1)	XP_011507481.1:n.2402-3210_2402-3198del
XM_011509181.2:c.1961-3210_1961-3198del (AXDND1)	XP_011507483.1:n.1961-3210_1961-3198del
XM_017000257.2:c.2297-3210_2297-3198del (AXDND1)	XP_016855746.1:n.2297-3210_2297-3198del
XM_017000258.2:c.2159-3210_2159-3198del (AXDND1)	XP_016855747.1:n.2159-3210_2159-3198del
XM_017002298.1:c.679_691del (NPHS2)	XP_016857787.1:p.Val227CysfsTer6
XM_024453104.1:c.2912-3210_2912-3198del (AXDND1)	XP_024308872.1:n.2912-3210_2912-3198del
XM_024453107.1:c.2912-3210_2912-3198del (AXDND1)	XP_024308875.1:n.2912-3210_2912-3198del
NM_144696.6:c.3032-3210_3032-3198del (AXDND1) MANE Select	NP_653297.3:n.3032-3210_3032-3198del
NM_001297575.2:c.808_820del (NPHS2)	NP_001284504.1:p.Val270CysfsTer6
NM_014625.4:c.1012_1024del (NPHS2) MANE Select	NP_055440.1:p.Val338CysfsTer6
NR_073544.2:n.3080-3210_3080-3198del (AXDND1)