Canonical Allele Identifier: CA1878472641

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503016_124503017delinsAC , CM000671.2:g.124503016_124503017delinsAC	GRCh38
NC_000009.11:g.127265295_127265296delinsAC , CM000671.1:g.127265295_127265296delinsAC	GRCh37
NC_000009.10:g.126305116_126305117delinsAC	NCBI36
NG_008176.1:g.9404_9405delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+62_244+63delinsGT MANE Select	ENSP00000362690.4:n.244+62_244+63delinsGT
ENST00000373588.8:c.244+62_244+63delinsGT	ENSP00000362690.4:n.244+62_244+63delinsGT
ENST00000455734.1:c.244+62_244+63delinsGT	ENSP00000393245.1:n.244+62_244+63delinsGT
ENST00000620110.4:c.244+62_244+63delinsGT	ENSP00000483309.1:n.244+62_244+63delinsGT
NM_004959.4:c.244+62_244+63delinsGT	NP_004950.2:n.244+62_244+63delinsGT
XM_005251871.2:c.244+62_244+63delinsGT	XP_005251928.1:n.244+62_244+63delinsGT
XM_005251872.3:c.-18+277_-18+278delinsGT	XP_005251929.1:n.-18+277_-18+278delinsGT
XM_011518455.1:c.244+62_244+63delinsGT	XP_011516757.1:n.244+62_244+63delinsGT
XM_011518456.1:c.244+62_244+63delinsGT	XP_011516758.1:n.244+62_244+63delinsGT
NM_004959.5:c.244+62_244+63delinsGT MANE Select	NP_004950.2:n.244+62_244+63delinsGT