Canonical Allele Identifier: CA1219157704

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038463_200038464delinsTC , CM000663.2:g.200038463_200038464delinsTC	GRCh38
NC_000001.10:g.200007591_200007592delinsTC , CM000663.1:g.200007591_200007592delinsTC	GRCh37
NC_000001.9:g.198274214_198274215delinsTC	NCBI36
NG_050913.1:g.15862_15863delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1195_65-1194delinsTC MANE Select	ENSP00000356331.3:n.65-1195_65-1194delinsTC
ENST00000236914.7:c.65-5311_65-5310delinsTC	ENSP00000236914.3:n.65-5311_65-5310delinsTC
ENST00000367362.7:c.65-1195_65-1194delinsTC	ENSP00000356331.3:n.65-1195_65-1194delinsTC
ENST00000447034.1:c.30-238_30-237delinsTC
ENST00000474307.1:c.*419-5311_*419-5310delinsTC	ENSP00000436776.1:n.*419-5311_*419-5310delinsTC
NM_003822.4:c.65-5311_65-5310delinsTC	NP_003813.1:n.65-5311_65-5310delinsTC
NM_205860.2:c.65-1195_65-1194delinsTC	NP_995582.1:n.65-1195_65-1194delinsTC
XM_011509380.1:c.-56-1195_-56-1194delinsTC	XP_011507682.1:n.-56-1195_-56-1194delinsTC
XM_011509382.1:c.-14-5311_-14-5310delinsTC	XP_011507684.1:n.-14-5311_-14-5310delinsTC
XM_011509381.3:c.-366_-365delinsTC	XP_011507683.1:n.-366_-365delinsTC
NM_205860.3:c.65-1195_65-1194delinsTC MANE Select	NP_995582.1:n.65-1195_65-1194delinsTC
NM_003822.5:c.65-5311_65-5310delinsTC	NP_003813.1:n.65-5311_65-5310delinsTC