Canonical Allele Identifier: CA35913297

Gene: NR5A2

Linked Data

• dbSNP Id: rs143034894
• gnomAD v2: 1-200007277-GGT-G
• gnomAD v3: 1-200038149-GGT-G
• gnomAD v4: 1-200038149-GGT-G
• COSMIC: COSN17142629
• MyVariant Identifiers: chr1:g.200007278_200007279del (hg19) ; chr1:g.200038150_200038151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038150_200038151del , CM000663.2:g.200038150_200038151del	GRCh38
NC_000001.10:g.200007278_200007279del , CM000663.1:g.200007278_200007279del	GRCh37
NC_000001.9:g.198273901_198273902del	NCBI36
NG_050913.1:g.15549_15550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1508_65-1507del MANE Select	ENSP00000356331.3:n.65-1508_65-1507del
ENST00000236914.7:c.65-5624_65-5623del	ENSP00000236914.3:n.65-5624_65-5623del
ENST00000367362.7:c.65-1508_65-1507del	ENSP00000356331.3:n.65-1508_65-1507del
ENST00000447034.1:c.30-551_30-550del
ENST00000474307.1:c.*419-5624_*419-5623del	ENSP00000436776.1:n.*419-5624_*419-5623de...
NM_003822.4:c.65-5624_65-5623del	NP_003813.1:n.65-5624_65-5623del
NM_205860.2:c.65-1508_65-1507del	NP_995582.1:n.65-1508_65-1507del
XM_011509380.1:c.-56-1508_-56-1507del	XP_011507682.1:n.-56-1508_-56-1507del
XM_011509382.1:c.-14-5624_-14-5623del	XP_011507684.1:n.-14-5624_-14-5623del
XM_011509381.3:c.-679_-678del	XP_011507683.1:n.-679_-678del
NM_205860.3:c.65-1508_65-1507del MANE Select	NP_995582.1:n.65-1508_65-1507del
NM_003822.5:c.65-5624_65-5623del	NP_003813.1:n.65-5624_65-5623del