Canonical Allele Identifier: CA2695211108

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503179_124503182dup , CM000671.2:g.124503179_124503182dup	GRCh38
NC_000009.11:g.127265458_127265461dup , CM000671.1:g.127265458_127265461dup	GRCh37
NC_000009.10:g.126305279_126305282dup	NCBI36
NG_008176.1:g.9239_9242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.141_144dup MANE Select	ENSP00000362690.4:p.Cys49HisfsTer?
ENST00000373588.8:c.141_144dup	ENSP00000362690.4:p.Cys49HisfsTer?
ENST00000455734.1:c.141_144dup	ENSP00000393245.1:p.Cys49HisfsTer?
ENST00000620110.4:c.141_144dup	ENSP00000483309.1:p.Cys49HisfsTer?
NM_004959.4:c.141_144dup	NP_004950.2:p.Cys49HisfsTer?
XM_005251871.2:c.141_144dup	XP_005251928.1:p.Cys49HisfsTer?
XM_005251872.3:c.-18+112_-18+115dup	XP_005251929.1:n.-18+112_-18+115dup
XM_011518455.1:c.141_144dup	XP_011516757.1:p.Cys49HisfsTer?
XM_011518456.1:c.141_144dup	XP_011516758.1:p.Cys49HisfsTer?
NM_004959.5:c.141_144dup MANE Select	NP_004950.2:p.Cys49HisfsTer?