Canonical Allele Identifier: CA1878472371

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124502768_124502769delinsTC , CM000671.2:g.124502768_124502769delinsTC	GRCh38
NC_000009.11:g.127265047_127265048delinsTC , CM000671.1:g.127265047_127265048delinsTC	GRCh37
NC_000009.10:g.126304868_126304869delinsTC	NCBI36
NG_008176.1:g.9652_9653delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+310_244+311delinsGA MANE Select	ENSP00000362690.4:n.244+310_244+311delinsGA
ENST00000373588.8:c.244+310_244+311delinsGA	ENSP00000362690.4:n.244+310_244+311delinsGA
ENST00000455734.1:c.244+310_244+311delinsGA	ENSP00000393245.1:n.244+310_244+311delinsGA
ENST00000620110.4:c.244+310_244+311delinsGA	ENSP00000483309.1:n.244+310_244+311delinsGA
NM_004959.4:c.244+310_244+311delinsGA	NP_004950.2:n.244+310_244+311delinsGA
XM_005251871.2:c.244+310_244+311delinsGA	XP_005251928.1:n.244+310_244+311delinsGA
XM_005251872.3:c.-18+525_-18+526delinsGA	XP_005251929.1:n.-18+525_-18+526delinsGA
XM_011518455.1:c.244+310_244+311delinsGA	XP_011516757.1:n.244+310_244+311delinsGA
XM_011518456.1:c.244+310_244+311delinsGA	XP_011516758.1:n.244+310_244+311delinsGA
NM_004959.5:c.244+310_244+311delinsGA MANE Select	NP_004950.2:n.244+310_244+311delinsGA