Canonical Allele Identifier: CA5235538

Gene: NR5A1

Linked Data

• dbSNP Id: rs748781136
• ExAC: 9:127265322 TG / T
• gnomAD v2: 9-127265322-TG-T
• gnomAD v3: 9-124503043-TG-T
• gnomAD v4: 9-124503043-TG-T
• MyVariant Identifiers: chr9:g.127265323del (hg19) ; chr9:g.124503044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503049del , CM000671.2:g.124503049del	GRCh38
NC_000009.11:g.127265328del , CM000671.1:g.127265328del	GRCh37
NC_000009.10:g.126305149del	NCBI36
NG_008176.1:g.9377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+35del MANE Select	ENSP00000362690.4:n.244+35del
ENST00000373588.8:c.244+35del	ENSP00000362690.4:n.244+35del
ENST00000455734.1:c.244+35del	ENSP00000393245.1:n.244+35del
ENST00000620110.4:c.244+35del	ENSP00000483309.1:n.244+35del
NM_004959.4:c.244+35del	NP_004950.2:n.244+35del
XM_005251871.2:c.244+35del	XP_005251928.1:n.244+35del
XM_005251872.3:c.-18+250del	XP_005251929.1:n.-18+250del
XM_011518455.1:c.244+35del	XP_011516757.1:n.244+35del
XM_011518456.1:c.244+35del	XP_011516758.1:n.244+35del
NM_004959.5:c.244+35del MANE Select	NP_004950.2:n.244+35del