Canonical Allele Identifier: CA2691629225

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500922-CTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500932_124500978del , CM000671.2:g.124500932_124500978del	GRCh38
NC_000009.11:g.127263211_127263257del , CM000671.1:g.127263211_127263257del	GRCh37
NC_000009.10:g.126303032_126303078del	NCBI36
NG_008176.1:g.11452_11498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-254_245-208del MANE Select	ENSP00000362690.4:n.245-254_245-208del
ENST00000373587.3:c.18_39+25del
ENST00000373588.8:c.245-254_245-208del	ENSP00000362690.4:n.245-254_245-208del
ENST00000455734.1:c.245-254_245-208del	ENSP00000393245.1:n.245-254_245-208del
ENST00000620110.4:c.245-254_245-208del	ENSP00000483309.1:n.245-254_245-208del
NM_004959.4:c.245-254_245-208del	NP_004950.2:n.245-254_245-208del
XM_005251871.2:c.245-254_245-208del	XP_005251928.1:n.245-254_245-208del
XM_005251872.3:c.-17-254_-17-208del	XP_005251929.1:n.-17-254_-17-208del
XM_011518455.1:c.245-254_245-208del	XP_011516757.1:n.245-254_245-208del
XM_011518456.1:c.245-254_245-208del	XP_011516758.1:n.245-254_245-208del
NM_004959.5:c.245-254_245-208del MANE Select	NP_004950.2:n.245-254_245-208del