Canonical Allele Identifier: CA528296391

Gene: NR5A2

Linked Data

• dbSNP Id: rs1558096253
• gnomAD v2: 1-200007874-TCAGA-T
• gnomAD v4: 1-200038746-TCAGA-T
• MyVariant Identifiers: chr1:g.200007875_200007878del (hg19) ; chr1:g.200038747_200038750del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038751_200038754del , CM000663.2:g.200038751_200038754del	GRCh38
NC_000001.10:g.200007879_200007882del , CM000663.1:g.200007879_200007882del	GRCh37
NC_000001.9:g.198274502_198274505del	NCBI36
NG_050913.1:g.16150_16153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-907_65-904del MANE Select	ENSP00000356331.3:n.65-907_65-904del
ENST00000236914.7:c.65-5023_65-5020del	ENSP00000236914.3:n.65-5023_65-5020del
ENST00000367362.7:c.65-907_65-904del	ENSP00000356331.3:n.65-907_65-904del
ENST00000447034.1:c.80_83del
ENST00000474307.1:c.*419-5023_*419-5020del	ENSP00000436776.1:n.*419-5023_*419-5020del
NM_003822.4:c.65-5023_65-5020del	NP_003813.1:n.65-5023_65-5020del
NM_205860.2:c.65-907_65-904del	NP_995582.1:n.65-907_65-904del
XM_011509380.1:c.-56-907_-56-904del	XP_011507682.1:n.-56-907_-56-904del
XM_011509381.1:c.-78_-75del	XP_011507683.1:n.-78_-75del
XM_011509382.1:c.-14-5023_-14-5020del	XP_011507684.1:n.-14-5023_-14-5020del
XM_011509381.3:c.-78_-75del	XP_011507683.1:n.-78_-75del
NM_205860.3:c.65-907_65-904del MANE Select	NP_995582.1:n.65-907_65-904del
NM_003822.5:c.65-5023_65-5020del	NP_003813.1:n.65-5023_65-5020del