Canonical Allele Identifier: CA1210317148

Gene: NPHS2 AXDND1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551343_179551344delinsGA , CM000663.2:g.179551343_179551344delinsGA	GRCh38
NC_000001.10:g.179520478_179520479delinsGA , CM000663.1:g.179520478_179520479delinsGA	GRCh37
NC_000001.9:g.177787101_177787102delinsGA	NCBI36
NG_007535.1:g.29606_29607delinsTC , LRG_887:g.29606_29607delinsTC
NG_033075.1:g.190624_190625delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.981_982delinsTC (NPHS2) MANE Select	ENSP00000356587.4:p.Leu327=
ENST00000367618.8:c.3032-3169_3032-3168delinsGA (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3169_3032-3168delinsGA
ENST00000367615.8:c.981_982delinsTC (NPHS2)	ENSP00000356587.4:p.Leu327=
ENST00000367616.4:c.777_778delinsTC (NPHS2)	ENSP00000356588.4:p.Leu259=
ENST00000367618.7:c.3032-3169_3032-3168delinsGA (AXDND1)	ENSP00000356590.3:n.3032-3169_3032-3168delinsGA
ENST00000434088.1:c.2612-3169_2612-3168delinsGA (AXDND1)	ENSP00000391716.1:n.2612-3169_2612-3168delinsGA
ENST00000457238.6:c.*1011-3169_*1011-3168delinsGA (AXDND1)	ENSP00000416712.3:n.*1011-3169_*1011-3168delinsGA
ENST00000484455.1:n.471-3169_471-3168delinsGA (AXDND1)
ENST00000484883.1:n.911-3169_911-3168delinsGA (AXDND1)
ENST00000489080.1:n.277_278delinsGA (AXDND1)
ENST00000511157.5:c.*1301-3169_*1301-3168delinsGA (AXDND1)	ENSP00000424373.1:n.*1301-3169_*1301-3168delinsGA
ENST00000617277.4:c.*1207-3169_*1207-3168delinsGA (AXDND1)	ENSP00000482167.1:n.*1207-3169_*1207-3168delinsGA
NM_001297575.1:c.777_778delinsTC (NPHS2)	NP_001284504.1:p.Leu259=
NM_014625.3:c.981_982delinsTC , LRG_887t1:c.981_982delinsTC (NPHS2)	NP_055440.1:p.Leu327=
NM_144696.5:c.3032-3169_3032-3168delinsGA (AXDND1)	NP_653297.3:n.3032-3169_3032-3168delinsGA
NR_073544.1:n.3152-3169_3152-3168delinsGA (AXDND1)
XM_005245483.2:c.804_805delinsTC (NPHS2)	XP_005245540.1:p.Leu268=
XM_011509165.1:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507467.1:n.3038-3169_3038-3168delinsGA
XM_011509166.1:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507468.1:n.3038-3169_3038-3168delinsGA
XM_011509167.1:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507469.1:n.3038-3169_3038-3168delinsGA
XM_011509168.1:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507470.1:n.3038-3169_3038-3168delinsGA
XM_011509169.1:c.2975-3169_2975-3168delinsGA (AXDND1)	XP_011507471.1:n.2975-3169_2975-3168delinsGA
XM_011509170.1:c.2930-3169_2930-3168delinsGA (AXDND1)	XP_011507472.1:n.2930-3169_2930-3168delinsGA
XM_011509171.1:c.2912-3169_2912-3168delinsGA (AXDND1)	XP_011507473.1:n.2912-3169_2912-3168delinsGA
XM_011509172.1:c.2912-3169_2912-3168delinsGA (AXDND1)	XP_011507474.1:n.2912-3169_2912-3168delinsGA
XM_011509173.1:c.2912-3169_2912-3168delinsGA (AXDND1)	XP_011507475.1:n.2912-3169_2912-3168delinsGA
XM_011509174.1:c.2816-3169_2816-3168delinsGA (AXDND1)	XP_011507476.1:n.2816-3169_2816-3168delinsGA
XM_011509175.1:c.2810-3169_2810-3168delinsGA (AXDND1)	XP_011507477.1:n.2810-3169_2810-3168delinsGA
XM_011509176.1:c.2741-3169_2741-3168delinsGA (AXDND1)	XP_011507478.1:n.2741-3169_2741-3168delinsGA
XM_011509179.1:c.2402-3169_2402-3168delinsGA (AXDND1)	XP_011507481.1:n.2402-3169_2402-3168delinsGA
XM_011509181.1:c.1961-3169_1961-3168delinsGA (AXDND1)	XP_011507483.1:n.1961-3169_1961-3168delinsGA
XM_005245483.3:c.804_805delinsTC (NPHS2)	XP_005245540.1:p.Leu268=
XM_011509166.3:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507468.1:n.3038-3169_3038-3168delinsGA
XM_011509167.3:c.3038-3169_3038-3168delinsGA (AXDND1)	XP_011507469.1:n.3038-3169_3038-3168delinsGA
XM_011509179.2:c.2402-3169_2402-3168delinsGA (AXDND1)	XP_011507481.1:n.2402-3169_2402-3168delinsGA
XM_011509181.2:c.1961-3169_1961-3168delinsGA (AXDND1)	XP_011507483.1:n.1961-3169_1961-3168delinsGA
XM_017000257.2:c.2297-3169_2297-3168delinsGA (AXDND1)	XP_016855746.1:n.2297-3169_2297-3168delinsGA
XM_017000258.2:c.2159-3169_2159-3168delinsGA (AXDND1)	XP_016855747.1:n.2159-3169_2159-3168delinsGA
XM_017002298.1:c.648_649delinsTC (NPHS2)	XP_016857787.1:p.Leu216=
XM_024453104.1:c.2912-3169_2912-3168delinsGA (AXDND1)	XP_024308872.1:n.2912-3169_2912-3168delinsGA
XM_024453107.1:c.2912-3169_2912-3168delinsGA (AXDND1)	XP_024308875.1:n.2912-3169_2912-3168delinsGA
NM_144696.6:c.3032-3169_3032-3168delinsGA (AXDND1) MANE Select	NP_653297.3:n.3032-3169_3032-3168delinsGA
NM_001297575.2:c.777_778delinsTC (NPHS2)	NP_001284504.1:p.Leu259=
NM_014625.4:c.981_982delinsTC (NPHS2) MANE Select	NP_055440.1:p.Leu327=
NR_073544.2:n.3080-3169_3080-3168delinsGA (AXDND1)