Canonical Allele Identifier: CA1210317564

Gene: NPHS2 AXDND1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179552459_179552460delinsAG , CM000663.2:g.179552459_179552460delinsAG	GRCh38
NC_000001.10:g.179521594_179521595delinsAG , CM000663.1:g.179521594_179521595delinsAG	GRCh37
NC_000001.9:g.177788217_177788218delinsAG	NCBI36
NG_007535.1:g.28490_28491delinsCT , LRG_887:g.28490_28491delinsCT
NG_033075.1:g.191740_191741delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.873+143_873+144delinsCT (NPHS2) MANE Select	ENSP00000356587.4:n.873+143_873+144delinsCT
ENST00000367618.8:c.3032-2053_3032-2052delinsAG (AXDND1) MANE Select	ENSP00000356590.3:n.3032-2053_3032-2052delinsAG
ENST00000367615.8:c.873+143_873+144delinsCT (NPHS2)	ENSP00000356587.4:n.873+143_873+144delinsCT
ENST00000367616.4:c.669+143_669+144delinsCT (NPHS2)	ENSP00000356588.4:n.669+143_669+144delinsCT
ENST00000367618.7:c.3032-2053_3032-2052delinsAG (AXDND1)	ENSP00000356590.3:n.3032-2053_3032-2052delinsAG
ENST00000434088.1:c.2612-2053_2612-2052delinsAG (AXDND1)	ENSP00000391716.1:n.2612-2053_2612-2052delinsAG
ENST00000457238.6:c.*1011-2053_*1011-2052delinsAG (AXDND1)	ENSP00000416712.3:n.*1011-2053_*1011-2052delinsAG
ENST00000484455.1:n.471-2053_471-2052delinsAG (AXDND1)
ENST00000484883.1:n.911-2053_911-2052delinsAG (AXDND1)
ENST00000489080.1:n.1393_1394delinsAG (AXDND1)
ENST00000511157.5:c.*1301-2053_*1301-2052delinsAG (AXDND1)	ENSP00000424373.1:n.*1301-2053_*1301-2052delinsAG
ENST00000617277.4:c.*1207-2053_*1207-2052delinsAG (AXDND1)	ENSP00000482167.1:n.*1207-2053_*1207-2052delinsAG
NM_001297575.1:c.669+143_669+144delinsCT (NPHS2)	NP_001284504.1:n.669+143_669+144delinsCT
NM_014625.3:c.873+143_873+144delinsCT , LRG_887t1:c.873+143_873+144delinsCT (NPHS2)	NP_055440.1:n.873+143_873+144delinsCT
NM_144696.5:c.3032-2053_3032-2052delinsAG (AXDND1)	NP_653297.3:n.3032-2053_3032-2052delinsAG
NR_073544.1:n.3152-2053_3152-2052delinsAG (AXDND1)
XM_005245483.2:c.696+143_696+144delinsCT (NPHS2)	XP_005245540.1:n.696+143_696+144delinsCT
XM_006711529.2:c.873+143_873+144delinsCT (NPHS2)	XP_006711592.1:n.873+143_873+144delinsCT
XM_011509165.1:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507467.1:n.3038-2053_3038-2052delinsAG
XM_011509166.1:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507468.1:n.3038-2053_3038-2052delinsAG
XM_011509167.1:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507469.1:n.3038-2053_3038-2052delinsAG
XM_011509168.1:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507470.1:n.3038-2053_3038-2052delinsAG
XM_011509169.1:c.2975-2053_2975-2052delinsAG (AXDND1)	XP_011507471.1:n.2975-2053_2975-2052delinsAG
XM_011509170.1:c.2930-2053_2930-2052delinsAG (AXDND1)	XP_011507472.1:n.2930-2053_2930-2052delinsAG
XM_011509171.1:c.2912-2053_2912-2052delinsAG (AXDND1)	XP_011507473.1:n.2912-2053_2912-2052delinsAG
XM_011509172.1:c.2912-2053_2912-2052delinsAG (AXDND1)	XP_011507474.1:n.2912-2053_2912-2052delinsAG
XM_011509173.1:c.2912-2053_2912-2052delinsAG (AXDND1)	XP_011507475.1:n.2912-2053_2912-2052delinsAG
XM_011509174.1:c.2816-2053_2816-2052delinsAG (AXDND1)	XP_011507476.1:n.2816-2053_2816-2052delinsAG
XM_011509175.1:c.2810-2053_2810-2052delinsAG (AXDND1)	XP_011507477.1:n.2810-2053_2810-2052delinsAG
XM_011509176.1:c.2741-2053_2741-2052delinsAG (AXDND1)	XP_011507478.1:n.2741-2053_2741-2052delinsAG
XM_011509179.1:c.2402-2053_2402-2052delinsAG (AXDND1)	XP_011507481.1:n.2402-2053_2402-2052delinsAG
XM_011509181.1:c.1961-2053_1961-2052delinsAG (AXDND1)	XP_011507483.1:n.1961-2053_1961-2052delinsAG
XM_005245483.3:c.696+143_696+144delinsCT (NPHS2)	XP_005245540.1:n.696+143_696+144delinsCT
XM_011509166.3:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507468.1:n.3038-2053_3038-2052delinsAG
XM_011509167.3:c.3038-2053_3038-2052delinsAG (AXDND1)	XP_011507469.1:n.3038-2053_3038-2052delinsAG
XM_011509179.2:c.2402-2053_2402-2052delinsAG (AXDND1)	XP_011507481.1:n.2402-2053_2402-2052delinsAG
XM_011509181.2:c.1961-2053_1961-2052delinsAG (AXDND1)	XP_011507483.1:n.1961-2053_1961-2052delinsAG
XM_017000257.2:c.2297-2053_2297-2052delinsAG (AXDND1)	XP_016855746.1:n.2297-2053_2297-2052delinsAG
XM_017000258.2:c.2159-2053_2159-2052delinsAG (AXDND1)	XP_016855747.1:n.2159-2053_2159-2052delinsAG
XM_017002298.1:c.540+143_540+144delinsCT (NPHS2)	XP_016857787.1:n.540+143_540+144delinsCT
XM_024453104.1:c.2912-2053_2912-2052delinsAG (AXDND1)	XP_024308872.1:n.2912-2053_2912-2052delinsAG
XM_024453107.1:c.2912-2053_2912-2052delinsAG (AXDND1)	XP_024308875.1:n.2912-2053_2912-2052delinsAG
NM_144696.6:c.3032-2053_3032-2052delinsAG (AXDND1) MANE Select	NP_653297.3:n.3032-2053_3032-2052delinsAG
NM_001297575.2:c.669+143_669+144delinsCT (NPHS2)	NP_001284504.1:n.669+143_669+144delinsCT
NM_014625.4:c.873+143_873+144delinsCT (NPHS2) MANE Select	NP_055440.1:n.873+143_873+144delinsCT
NR_073544.2:n.3080-2053_3080-2052delinsAG (AXDND1)