Canonical Allele Identifier: CA344037716

Gene: NR5A2

Linked Data

• dbSNP Id: rs1286694063
• gnomAD v4: 1-200038664-A-AC
• MyVariant Identifiers: chr1:g.200007792_200007793insC (hg19) ; chr1:g.200038664_200038665insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038667dup , CM000663.2:g.200038667dup	GRCh38
NC_000001.10:g.200007795dup , CM000663.1:g.200007795dup	GRCh37
NC_000001.9:g.198274418dup	NCBI36
NG_050913.1:g.16066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-991dup MANE Select	ENSP00000356331.3:n.65-991dup
ENST00000236914.7:c.65-5107dup	ENSP00000236914.3:n.65-5107dup
ENST00000367362.7:c.65-991dup	ENSP00000356331.3:n.65-991dup
ENST00000447034.1:c.30-34dup
ENST00000474307.1:c.*419-5107dup	ENSP00000436776.1:n.*419-5107dup
NM_003822.4:c.65-5107dup	NP_003813.1:n.65-5107dup
NM_205860.2:c.65-991dup	NP_995582.1:n.65-991dup
XM_011509380.1:c.-56-991dup	XP_011507682.1:n.-56-991dup
XM_011509382.1:c.-14-5107dup	XP_011507684.1:n.-14-5107dup
XM_011509381.3:c.-162dup	XP_011507683.1:n.-162dup
NM_205860.3:c.65-991dup MANE Select	NP_995582.1:n.65-991dup
NM_003822.5:c.65-5107dup	NP_003813.1:n.65-5107dup