Canonical Allele Identifier: CA1878472669

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503029_124503030delinsAC , CM000671.2:g.124503029_124503030delinsAC	GRCh38
NC_000009.11:g.127265308_127265309delinsAC , CM000671.1:g.127265308_127265309delinsAC	GRCh37
NC_000009.10:g.126305129_126305130delinsAC	NCBI36
NG_008176.1:g.9391_9392delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+49_244+50delinsGT MANE Select	ENSP00000362690.4:n.244+49_244+50delinsGT
ENST00000373588.8:c.244+49_244+50delinsGT	ENSP00000362690.4:n.244+49_244+50delinsGT
ENST00000455734.1:c.244+49_244+50delinsGT	ENSP00000393245.1:n.244+49_244+50delinsGT
ENST00000620110.4:c.244+49_244+50delinsGT	ENSP00000483309.1:n.244+49_244+50delinsGT
NM_004959.4:c.244+49_244+50delinsGT	NP_004950.2:n.244+49_244+50delinsGT
XM_005251871.2:c.244+49_244+50delinsGT	XP_005251928.1:n.244+49_244+50delinsGT
XM_005251872.3:c.-18+264_-18+265delinsGT	XP_005251929.1:n.-18+264_-18+265delinsGT
XM_011518455.1:c.244+49_244+50delinsGT	XP_011516757.1:n.244+49_244+50delinsGT
XM_011518456.1:c.244+49_244+50delinsGT	XP_011516758.1:n.244+49_244+50delinsGT
NM_004959.5:c.244+49_244+50delinsGT MANE Select	NP_004950.2:n.244+49_244+50delinsGT