Canonical Allele Identifier: CA1219157755
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038564_200038565delinsAT , CM000663.2:g.200038564_200038565delinsAT GRCh38
NC_000001.10:g.200007692_200007693delinsAT , CM000663.1:g.200007692_200007693delinsAT GRCh37
NC_000001.9:g.198274315_198274316delinsAT NCBI36
NG_050913.1:g.15963_15964delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367362.8:c.65-1094_65-1093delinsAT MANE Select ENSP00000356331.3:n.65-1094_65-1093delinsAT
ENST00000236914.7:c.65-5210_65-5209delinsAT ENSP00000236914.3:n.65-5210_65-5209delinsAT
ENST00000367362.7:c.65-1094_65-1093delinsAT ENSP00000356331.3:n.65-1094_65-1093delinsAT
ENST00000447034.1:c.30-137_30-136delinsAT
ENST00000474307.1:c.*419-5210_*419-5209delinsAT ENSP00000436776.1:n.*419-5210_*419-5209delinsAT
NM_003822.4:c.65-5210_65-5209delinsAT NP_003813.1:n.65-5210_65-5209delinsAT
NM_205860.2:c.65-1094_65-1093delinsAT NP_995582.1:n.65-1094_65-1093delinsAT
XM_011509380.1:c.-56-1094_-56-1093delinsAT XP_011507682.1:n.-56-1094_-56-1093delinsAT
XM_011509382.1:c.-14-5210_-14-5209delinsAT XP_011507684.1:n.-14-5210_-14-5209delinsAT
XM_011509381.3:c.-265_-264delinsAT XP_011507683.1:n.-265_-264delinsAT
NM_205860.3:c.65-1094_65-1093delinsAT MANE Select NP_995582.1:n.65-1094_65-1093delinsAT
NM_003822.5:c.65-5210_65-5209delinsAT NP_003813.1:n.65-5210_65-5209delinsAT