Canonical Allele Identifier: CA528296366

Gene: NR5A2

Linked Data

• dbSNP Id: rs1452604216
• gnomAD v2: 1-200007494-ACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT-A
• gnomAD v3: 1-200038366-ACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT-A
• gnomAD v4: 1-200038366-ACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT-A
• MyVariant Identifiers: chr1:g.200007495_200007536del (hg19) ; chr1:g.200038367_200038408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038370_200038411del , CM000663.2:g.200038370_200038411del	GRCh38
NC_000001.10:g.200007498_200007539del , CM000663.1:g.200007498_200007539del	GRCh37
NC_000001.9:g.198274121_198274162del	NCBI36
NG_050913.1:g.15769_15810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1288_65-1247del MANE Select	ENSP00000356331.3:n.65-1288_65-1247del
ENST00000236914.7:c.65-5404_65-5363del	ENSP00000236914.3:n.65-5404_65-5363del
ENST00000367362.7:c.65-1288_65-1247del	ENSP00000356331.3:n.65-1288_65-1247del
ENST00000447034.1:c.30-331_30-290del
ENST00000474307.1:c.*419-5404_*419-5363del	ENSP00000436776.1:n.*419-5404_*419-5363de...
NM_003822.4:c.65-5404_65-5363del	NP_003813.1:n.65-5404_65-5363del
NM_205860.2:c.65-1288_65-1247del	NP_995582.1:n.65-1288_65-1247del
XM_011509380.1:c.-56-1288_-56-1247del	XP_011507682.1:n.-56-1288_-56-1247del
XM_011509382.1:c.-14-5404_-14-5363del	XP_011507684.1:n.-14-5404_-14-5363del
XM_011509381.3:c.-459_-418del	XP_011507683.1:n.-459_-418del
NM_205860.3:c.65-1288_65-1247del MANE Select	NP_995582.1:n.65-1288_65-1247del
NM_003822.5:c.65-5404_65-5363del	NP_003813.1:n.65-5404_65-5363del