Canonical Allele Identifier: CA422678269

Gene: NR5A2

Linked Data

• MyVariant Identifiers: chr1:g.200007930_200007931insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038806dup , CM000663.2:g.200038806dup	GRCh38
NC_000001.10:g.200007934dup , CM000663.1:g.200007934dup	GRCh37
NC_000001.9:g.198274557dup	NCBI36
NG_050913.1:g.16205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-852dup MANE Select	ENSP00000356331.3:n.65-852dup
ENST00000236914.7:c.65-4968dup	ENSP00000236914.3:n.65-4968dup
ENST00000367362.7:c.65-852dup	ENSP00000356331.3:n.65-852dup
ENST00000447034.1:c.101+34dup
ENST00000474307.1:c.*419-4968dup	ENSP00000436776.1:n.*419-4968dup
NM_003822.4:c.65-4968dup	NP_003813.1:n.65-4968dup
NM_205860.2:c.65-852dup	NP_995582.1:n.65-852dup
XM_011509380.1:c.-56-852dup	XP_011507682.1:n.-56-852dup
XM_011509381.1:c.-57+34dup	XP_011507683.1:n.-57+34dup
XM_011509382.1:c.-14-4968dup	XP_011507684.1:n.-14-4968dup
XM_011509381.3:c.-57+34dup	XP_011507683.1:n.-57+34dup
NM_205860.3:c.65-852dup MANE Select	NP_995582.1:n.65-852dup
NM_003822.5:c.65-4968dup	NP_003813.1:n.65-4968dup