Canonical Allele Identifier: CA1219157781

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038628_200038631delinsTCTC , CM000663.2:g.200038628_200038631delinsTCTC	GRCh38
NC_000001.10:g.200007756_200007759delinsTCTC , CM000663.1:g.200007756_200007759delinsTCTC	GRCh37
NC_000001.9:g.198274379_198274382delinsTCTC	NCBI36
NG_050913.1:g.16027_16030delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1030_65-1027delinsTCTC MANE Select	ENSP00000356331.3:n.65-1030_65-1027delinsTCTC
ENST00000236914.7:c.65-5146_65-5143delinsTCTC	ENSP00000236914.3:n.65-5146_65-5143delinsTCTC
ENST00000367362.7:c.65-1030_65-1027delinsTCTC	ENSP00000356331.3:n.65-1030_65-1027delinsTCTC
ENST00000447034.1:c.30-73_30-70delinsTCTC
ENST00000474307.1:c.*419-5146_*419-5143delinsTCTC	ENSP00000436776.1:n.*419-5146_*419-5143delinsTCTC
NM_003822.4:c.65-5146_65-5143delinsTCTC	NP_003813.1:n.65-5146_65-5143delinsTCTC
NM_205860.2:c.65-1030_65-1027delinsTCTC	NP_995582.1:n.65-1030_65-1027delinsTCTC
XM_011509380.1:c.-56-1030_-56-1027delinsTCTC	XP_011507682.1:n.-56-1030_-56-1027delinsTCTC
XM_011509382.1:c.-14-5146_-14-5143delinsTCTC	XP_011507684.1:n.-14-5146_-14-5143delinsTCTC
XM_011509381.3:c.-201_-198delinsTCTC	XP_011507683.1:n.-201_-198delinsTCTC
NM_205860.3:c.65-1030_65-1027delinsTCTC MANE Select	NP_995582.1:n.65-1030_65-1027delinsTCTC
NM_003822.5:c.65-5146_65-5143delinsTCTC	NP_003813.1:n.65-5146_65-5143delinsTCTC