Canonical Allele Identifier: CA1219157857

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038795_200038796delinsTC , CM000663.2:g.200038795_200038796delinsTC	GRCh38
NC_000001.10:g.200007923_200007924delinsTC , CM000663.1:g.200007923_200007924delinsTC	GRCh37
NC_000001.9:g.198274546_198274547delinsTC	NCBI36
NG_050913.1:g.16194_16195delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-863_65-862delinsTC MANE Select	ENSP00000356331.3:n.65-863_65-862delinsTC
ENST00000236914.7:c.65-4979_65-4978delinsTC	ENSP00000236914.3:n.65-4979_65-4978delinsTC
ENST00000367362.7:c.65-863_65-862delinsTC	ENSP00000356331.3:n.65-863_65-862delinsTC
ENST00000447034.1:c.101+23_101+24delinsTC
ENST00000474307.1:c.*419-4979_*419-4978delinsTC	ENSP00000436776.1:n.*419-4979_*419-4978delinsTC
NM_003822.4:c.65-4979_65-4978delinsTC	NP_003813.1:n.65-4979_65-4978delinsTC
NM_205860.2:c.65-863_65-862delinsTC	NP_995582.1:n.65-863_65-862delinsTC
XM_011509380.1:c.-56-863_-56-862delinsTC	XP_011507682.1:n.-56-863_-56-862delinsTC
XM_011509381.1:c.-57+23_-57+24delinsTC	XP_011507683.1:n.-57+23_-57+24delinsTC
XM_011509382.1:c.-14-4979_-14-4978delinsTC	XP_011507684.1:n.-14-4979_-14-4978delinsTC
XM_011509381.3:c.-57+23_-57+24delinsTC	XP_011507683.1:n.-57+23_-57+24delinsTC
NM_205860.3:c.65-863_65-862delinsTC MANE Select	NP_995582.1:n.65-863_65-862delinsTC
NM_003822.5:c.65-4979_65-4978delinsTC	NP_003813.1:n.65-4979_65-4978delinsTC