Canonical Allele Identifier: CA1219157526

Gene: NR5A2

Linked Data

• dbSNP Id: rs1661863943

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038106_200038108del , CM000663.2:g.200038106_200038108del	GRCh38
NC_000001.10:g.200007234_200007236del , CM000663.1:g.200007234_200007236del	GRCh37
NC_000001.9:g.198273857_198273859del	NCBI36
NG_050913.1:g.15505_15507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1552_65-1550del MANE Select	ENSP00000356331.3:n.65-1552_65-1550del
ENST00000236914.7:c.65-5668_65-5666del	ENSP00000236914.3:n.65-5668_65-5666del
ENST00000367362.7:c.65-1552_65-1550del	ENSP00000356331.3:n.65-1552_65-1550del
ENST00000447034.1:c.30-595_30-593del
ENST00000474307.1:c.*419-5668_*419-5666del	ENSP00000436776.1:n.*419-5668_*419-5666de...
NM_003822.4:c.65-5668_65-5666del	NP_003813.1:n.65-5668_65-5666del
NM_205860.2:c.65-1552_65-1550del	NP_995582.1:n.65-1552_65-1550del
XM_011509380.1:c.-56-1552_-56-1550del	XP_011507682.1:n.-56-1552_-56-1550del
XM_011509382.1:c.-14-5668_-14-5666del	XP_011507684.1:n.-14-5668_-14-5666del
XM_011509381.3:c.-723_-721del	XP_011507683.1:n.-723_-721del
NM_205860.3:c.65-1552_65-1550del MANE Select	NP_995582.1:n.65-1552_65-1550del
NM_003822.5:c.65-5668_65-5666del	NP_003813.1:n.65-5668_65-5666del