Canonical Allele Identifier: CA1219157729
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038499_200038500delinsTC , CM000663.2:g.200038499_200038500delinsTC GRCh38
NC_000001.10:g.200007627_200007628delinsTC , CM000663.1:g.200007627_200007628delinsTC GRCh37
NC_000001.9:g.198274250_198274251delinsTC NCBI36
NG_050913.1:g.15898_15899delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000367362.8:c.65-1159_65-1158delinsTC MANE Select ENSP00000356331.3:n.65-1159_65-1158delinsTC
ENST00000236914.7:c.65-5275_65-5274delinsTC ENSP00000236914.3:n.65-5275_65-5274delinsTC
ENST00000367362.7:c.65-1159_65-1158delinsTC ENSP00000356331.3:n.65-1159_65-1158delinsTC
ENST00000447034.1:c.30-202_30-201delinsTC
ENST00000474307.1:c.*419-5275_*419-5274delinsTC ENSP00000436776.1:n.*419-5275_*419-5274delinsTC
NM_003822.4:c.65-5275_65-5274delinsTC NP_003813.1:n.65-5275_65-5274delinsTC
NM_205860.2:c.65-1159_65-1158delinsTC NP_995582.1:n.65-1159_65-1158delinsTC
XM_011509380.1:c.-56-1159_-56-1158delinsTC XP_011507682.1:n.-56-1159_-56-1158delinsTC
XM_011509382.1:c.-14-5275_-14-5274delinsTC XP_011507684.1:n.-14-5275_-14-5274delinsTC
XM_011509381.3:c.-330_-329delinsTC XP_011507683.1:n.-330_-329delinsTC
NM_205860.3:c.65-1159_65-1158delinsTC MANE Select NP_995582.1:n.65-1159_65-1158delinsTC
NM_003822.5:c.65-5275_65-5274delinsTC NP_003813.1:n.65-5275_65-5274delinsTC