Canonical Allele Identifier: CA528296392

Gene: NR5A2

Linked Data

• gnomAD v2: 1-200007874-TCA-T
• gnomAD v4: 1-200038746-TCA-T
• MyVariant Identifiers: chr1:g.200007875_200007878delinsGA (hg19) ; chr1:g.200038747_200038750delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038747_200038748del , CM000663.2:g.200038747_200038748del	GRCh38
NC_000001.10:g.200007875_200007876del , CM000663.1:g.200007875_200007876del	GRCh37
NC_000001.9:g.198274498_198274499del	NCBI36
NG_050913.1:g.16146_16147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-911_65-910del MANE Select	ENSP00000356331.3:n.65-911_65-910del
ENST00000236914.7:c.65-5027_65-5026del	ENSP00000236914.3:n.65-5027_65-5026del
ENST00000367362.7:c.65-911_65-910del	ENSP00000356331.3:n.65-911_65-910del
ENST00000447034.1:c.76_77del
ENST00000474307.1:c.*419-5027_*419-5026del	ENSP00000436776.1:n.*419-5027_*419-5026del
NM_003822.4:c.65-5027_65-5026del	NP_003813.1:n.65-5027_65-5026del
NM_205860.2:c.65-911_65-910del	NP_995582.1:n.65-911_65-910del
XM_011509380.1:c.-56-911_-56-910del	XP_011507682.1:n.-56-911_-56-910del
XM_011509381.1:c.-82_-81del	XP_011507683.1:n.-82_-81del
XM_011509382.1:c.-14-5027_-14-5026del	XP_011507684.1:n.-14-5027_-14-5026del
XM_011509381.3:c.-82_-81del	XP_011507683.1:n.-82_-81del
NM_205860.3:c.65-911_65-910del MANE Select	NP_995582.1:n.65-911_65-910del
NM_003822.5:c.65-5027_65-5026del	NP_003813.1:n.65-5027_65-5026del