Canonical Allele Identifier: CA2691629951

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503068-GCGGCGCGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503070_124503078del , CM000671.2:g.124503070_124503078del	GRCh38
NC_000009.11:g.127265349_127265357del , CM000671.1:g.127265349_127265357del	GRCh37
NC_000009.10:g.126305170_126305178del	NCBI36
NG_008176.1:g.9344_9352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+2_244+10del MANE Select	ENSP00000362690.4:n.244+2_244+10del
ENST00000373588.8:c.244+2_244+10del	ENSP00000362690.4:n.244+2_244+10del
ENST00000455734.1:c.244+2_244+10del	ENSP00000393245.1:n.244+2_244+10del
ENST00000620110.4:c.244+2_244+10del	ENSP00000483309.1:n.244+2_244+10del
NM_004959.4:c.244+2_244+10del	NP_004950.2:n.244+2_244+10del
XM_005251871.2:c.244+2_244+10del	XP_005251928.1:n.244+2_244+10del
XM_005251872.3:c.-18+217_-18+225del	XP_005251929.1:n.-18+217_-18+225del
XM_011518455.1:c.244+2_244+10del	XP_011516757.1:n.244+2_244+10del
XM_011518456.1:c.244+2_244+10del	XP_011516758.1:n.244+2_244+10del
NM_004959.5:c.244+2_244+10del MANE Select	NP_004950.2:n.244+2_244+10del