Canonical Allele Identifier: CA2691628987

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500844-GACCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500845_124500848del , CM000671.2:g.124500845_124500848del	GRCh38
NC_000009.11:g.127263124_127263127del , CM000671.1:g.127263124_127263127del	GRCh37
NC_000009.10:g.126302945_126302948del	NCBI36
NG_008176.1:g.11573_11576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-133_245-130del MANE Select	ENSP00000362690.4:n.245-133_245-130del
ENST00000373587.3:c.39+100_39+103del	ENSP00000362689.3:n.39+100_39+103del
ENST00000373588.8:c.245-133_245-130del	ENSP00000362690.4:n.245-133_245-130del
ENST00000455734.1:c.245-133_245-130del	ENSP00000393245.1:n.245-133_245-130del
ENST00000620110.4:c.245-133_245-130del	ENSP00000483309.1:n.245-133_245-130del
NM_004959.4:c.245-133_245-130del	NP_004950.2:n.245-133_245-130del
XM_005251871.2:c.245-133_245-130del	XP_005251928.1:n.245-133_245-130del
XM_005251872.3:c.-17-133_-17-130del	XP_005251929.1:n.-17-133_-17-130del
XM_011518455.1:c.245-133_245-130del	XP_011516757.1:n.245-133_245-130del
XM_011518456.1:c.245-133_245-130del	XP_011516758.1:n.245-133_245-130del
NM_004959.5:c.245-133_245-130del MANE Select	NP_004950.2:n.245-133_245-130del