Canonical Allele Identifier: CA1315733

Gene: NR5A2

Linked Data

• dbSNP Id: rs199854462
• ExAC: 1:200007922 A / AT
• gnomAD v2: 1-200007922-A-AT
• gnomAD v3: 1-200038794-A-AT
• gnomAD v4: 1-200038794-A-AT
• MyVariant Identifiers: chr1:g.200007922_200007923insT (hg19) ; chr1:g.200038794_200038795insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038795dup , CM000663.2:g.200038795dup	GRCh38
NC_000001.10:g.200007923dup , CM000663.1:g.200007923dup	GRCh37
NC_000001.9:g.198274546dup	NCBI36
NG_050913.1:g.16194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-863dup MANE Select	ENSP00000356331.3:n.65-863dup
ENST00000236914.7:c.65-4979dup	ENSP00000236914.3:n.65-4979dup
ENST00000367362.7:c.65-863dup	ENSP00000356331.3:n.65-863dup
ENST00000447034.1:c.101+23dup
ENST00000474307.1:c.*419-4979dup	ENSP00000436776.1:n.*419-4979dup
NM_003822.4:c.65-4979dup	NP_003813.1:n.65-4979dup
NM_205860.2:c.65-863dup	NP_995582.1:n.65-863dup
XM_011509380.1:c.-56-863dup	XP_011507682.1:n.-56-863dup
XM_011509381.1:c.-57+23dup	XP_011507683.1:n.-57+23dup
XM_011509382.1:c.-14-4979dup	XP_011507684.1:n.-14-4979dup
XM_011509381.3:c.-57+23dup	XP_011507683.1:n.-57+23dup
NM_205860.3:c.65-863dup MANE Select	NP_995582.1:n.65-863dup
NM_003822.5:c.65-4979dup	NP_003813.1:n.65-4979dup