Canonical Allele Identifier: CA729976832

Gene: NR5A2

Linked Data

• dbSNP Id: rs1282843724
• gnomAD v3: 1-200038375-C-CA
• gnomAD v4: 1-200038375-C-CA
• MyVariant Identifiers: chr1:g.200007503_200007504insA (hg19) ; chr1:g.200038375_200038376insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038376dup , CM000663.2:g.200038376dup	GRCh38
NC_000001.10:g.200007504dup , CM000663.1:g.200007504dup	GRCh37
NC_000001.9:g.198274127dup	NCBI36
NG_050913.1:g.15775dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1282dup MANE Select	ENSP00000356331.3:n.65-1282dup
ENST00000236914.7:c.65-5398dup	ENSP00000236914.3:n.65-5398dup
ENST00000367362.7:c.65-1282dup	ENSP00000356331.3:n.65-1282dup
ENST00000447034.1:c.30-325dup
ENST00000474307.1:c.*419-5398dup	ENSP00000436776.1:n.*419-5398dup
NM_003822.4:c.65-5398dup	NP_003813.1:n.65-5398dup
NM_205860.2:c.65-1282dup	NP_995582.1:n.65-1282dup
XM_011509380.1:c.-56-1282dup	XP_011507682.1:n.-56-1282dup
XM_011509382.1:c.-14-5398dup	XP_011507684.1:n.-14-5398dup
XM_011509381.3:c.-453dup	XP_011507683.1:n.-453dup
NM_205860.3:c.65-1282dup MANE Select	NP_995582.1:n.65-1282dup
NM_003822.5:c.65-5398dup	NP_003813.1:n.65-5398dup