Canonical Allele Identifier: CA528296352

Gene: NR5A2

Linked Data

• dbSNP Id: rs1404274768
• gnomAD v2: 1-200007236-GGGA-G
• gnomAD v3: 1-200038108-GGGA-G
• gnomAD v4: 1-200038108-GGGA-G
• MyVariant Identifiers: chr1:g.200007237_200007239del (hg19) ; chr1:g.200038109_200038111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038113_200038115del , CM000663.2:g.200038113_200038115del	GRCh38
NC_000001.10:g.200007241_200007243del , CM000663.1:g.200007241_200007243del	GRCh37
NC_000001.9:g.198273864_198273866del	NCBI36
NG_050913.1:g.15512_15514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1545_65-1543del MANE Select	ENSP00000356331.3:n.65-1545_65-1543del
ENST00000236914.7:c.65-5661_65-5659del	ENSP00000236914.3:n.65-5661_65-5659del
ENST00000367362.7:c.65-1545_65-1543del	ENSP00000356331.3:n.65-1545_65-1543del
ENST00000447034.1:c.30-588_30-586del
ENST00000474307.1:c.*419-5661_*419-5659del	ENSP00000436776.1:n.*419-5661_*419-5659de...
NM_003822.4:c.65-5661_65-5659del	NP_003813.1:n.65-5661_65-5659del
NM_205860.2:c.65-1545_65-1543del	NP_995582.1:n.65-1545_65-1543del
XM_011509380.1:c.-56-1545_-56-1543del	XP_011507682.1:n.-56-1545_-56-1543del
XM_011509382.1:c.-14-5661_-14-5659del	XP_011507684.1:n.-14-5661_-14-5659del
XM_011509381.3:c.-716_-714del	XP_011507683.1:n.-716_-714del
NM_205860.3:c.65-1545_65-1543del MANE Select	NP_995582.1:n.65-1545_65-1543del
NM_003822.5:c.65-5661_65-5659del	NP_003813.1:n.65-5661_65-5659del