Canonical Allele Identifier: CA2691629003

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500851-GGGGAAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500852_124500858del , CM000671.2:g.124500852_124500858del	GRCh38
NC_000009.11:g.127263131_127263137del , CM000671.1:g.127263131_127263137del	GRCh37
NC_000009.10:g.126302952_126302958del	NCBI36
NG_008176.1:g.11563_11569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-143_245-137del MANE Select	ENSP00000362690.4:n.245-143_245-137del
ENST00000373587.3:c.39+90_39+96del	ENSP00000362689.3:n.39+90_39+96del
ENST00000373588.8:c.245-143_245-137del	ENSP00000362690.4:n.245-143_245-137del
ENST00000455734.1:c.245-143_245-137del	ENSP00000393245.1:n.245-143_245-137del
ENST00000620110.4:c.245-143_245-137del	ENSP00000483309.1:n.245-143_245-137del
NM_004959.4:c.245-143_245-137del	NP_004950.2:n.245-143_245-137del
XM_005251871.2:c.245-143_245-137del	XP_005251928.1:n.245-143_245-137del
XM_005251872.3:c.-17-143_-17-137del	XP_005251929.1:n.-17-143_-17-137del
XM_011518455.1:c.245-143_245-137del	XP_011516757.1:n.245-143_245-137del
XM_011518456.1:c.245-143_245-137del	XP_011516758.1:n.245-143_245-137del
NM_004959.5:c.245-143_245-137del MANE Select	NP_004950.2:n.245-143_245-137del