Canonical Allele Identifier: CA729976955

Gene: NR5A2

Linked Data

• dbSNP Id: rs1244416464
• gnomAD v4: 1-200038628-TCTC-T
• MyVariant Identifiers: chr1:g.200007757_200007759del (hg19) ; chr1:g.200038629_200038631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038632_200038634del , CM000663.2:g.200038632_200038634del	GRCh38
NC_000001.10:g.200007760_200007762del , CM000663.1:g.200007760_200007762del	GRCh37
NC_000001.9:g.198274383_198274385del	NCBI36
NG_050913.1:g.16031_16033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1026_65-1024del MANE Select	ENSP00000356331.3:n.65-1026_65-1024del
ENST00000236914.7:c.65-5142_65-5140del	ENSP00000236914.3:n.65-5142_65-5140del
ENST00000367362.7:c.65-1026_65-1024del	ENSP00000356331.3:n.65-1026_65-1024del
ENST00000447034.1:c.30-69_30-67del
ENST00000474307.1:c.*419-5142_*419-5140del	ENSP00000436776.1:n.*419-5142_*419-5140del
NM_003822.4:c.65-5142_65-5140del	NP_003813.1:n.65-5142_65-5140del
NM_205860.2:c.65-1026_65-1024del	NP_995582.1:n.65-1026_65-1024del
XM_011509380.1:c.-56-1026_-56-1024del	XP_011507682.1:n.-56-1026_-56-1024del
XM_011509382.1:c.-14-5142_-14-5140del	XP_011507684.1:n.-14-5142_-14-5140del
XM_011509381.3:c.-197_-195del	XP_011507683.1:n.-197_-195del
NM_205860.3:c.65-1026_65-1024del MANE Select	NP_995582.1:n.65-1026_65-1024del
NM_003822.5:c.65-5142_65-5140del	NP_003813.1:n.65-5142_65-5140del