Canonical Allele Identifier: CA1219157610
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038284_200038285delinsAC , CM000663.2:g.200038284_200038285delinsAC GRCh38
NC_000001.10:g.200007412_200007413delinsAC , CM000663.1:g.200007412_200007413delinsAC GRCh37
NC_000001.9:g.198274035_198274036delinsAC NCBI36
NG_050913.1:g.15683_15684delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1374_65-1373delinsAC MANE Select ENSP00000356331.3:n.65-1374_65-1373delins...
ENST00000236914.7:c.65-5490_65-5489delinsAC ENSP00000236914.3:n.65-5490_65-5489delins...
ENST00000367362.7:c.65-1374_65-1373delinsAC ENSP00000356331.3:n.65-1374_65-1373delins...
ENST00000447034.1:c.30-417_30-416delinsAC
ENST00000474307.1:c.*419-5490_*419-5489delinsAC ENSP00000436776.1:n.*419-5490_*419-5489de...
NM_003822.4:c.65-5490_65-5489delinsAC NP_003813.1:n.65-5490_65-5489delinsAC
NM_205860.2:c.65-1374_65-1373delinsAC NP_995582.1:n.65-1374_65-1373delinsAC
XM_011509380.1:c.-56-1374_-56-1373delinsAC XP_011507682.1:n.-56-1374_-56-1373delinsA...
XM_011509382.1:c.-14-5490_-14-5489delinsAC XP_011507684.1:n.-14-5490_-14-5489delinsA...
XM_011509381.3:c.-545_-544delinsAC XP_011507683.1:n.-545_-544delinsAC
NM_205860.3:c.65-1374_65-1373delinsAC MANE Select NP_995582.1:n.65-1374_65-1373delinsAC
NM_003822.5:c.65-5490_65-5489delinsAC NP_003813.1:n.65-5490_65-5489delinsAC