Canonical Allele Identifier: CA1219157710
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038473_200038474delinsCA , CM000663.2:g.200038473_200038474delinsCA GRCh38
NC_000001.10:g.200007601_200007602delinsCA , CM000663.1:g.200007601_200007602delinsCA GRCh37
NC_000001.9:g.198274224_198274225delinsCA NCBI36
NG_050913.1:g.15872_15873delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367362.8:c.65-1185_65-1184delinsCA MANE Select ENSP00000356331.3:n.65-1185_65-1184delinsCA
ENST00000236914.7:c.65-5301_65-5300delinsCA ENSP00000236914.3:n.65-5301_65-5300delinsCA
ENST00000367362.7:c.65-1185_65-1184delinsCA ENSP00000356331.3:n.65-1185_65-1184delinsCA
ENST00000447034.1:c.30-228_30-227delinsCA
ENST00000474307.1:c.*419-5301_*419-5300delinsCA ENSP00000436776.1:n.*419-5301_*419-5300delinsCA
NM_003822.4:c.65-5301_65-5300delinsCA NP_003813.1:n.65-5301_65-5300delinsCA
NM_205860.2:c.65-1185_65-1184delinsCA NP_995582.1:n.65-1185_65-1184delinsCA
XM_011509380.1:c.-56-1185_-56-1184delinsCA XP_011507682.1:n.-56-1185_-56-1184delinsCA
XM_011509382.1:c.-14-5301_-14-5300delinsCA XP_011507684.1:n.-14-5301_-14-5300delinsCA
XM_011509381.3:c.-356_-355delinsCA XP_011507683.1:n.-356_-355delinsCA
NM_205860.3:c.65-1185_65-1184delinsCA MANE Select NP_995582.1:n.65-1185_65-1184delinsCA
NM_003822.5:c.65-5301_65-5300delinsCA NP_003813.1:n.65-5301_65-5300delinsCA