Canonical Allele Identifier: CA2579449072

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500532_124500533insCA , CM000671.2:g.124500532_124500533insCA	GRCh38
NC_000009.11:g.127262811_127262812insCA , CM000671.1:g.127262811_127262812insCA	GRCh37
NC_000009.10:g.126302632_126302633insCA	NCBI36
NG_008176.1:g.11888_11889insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.427_428insTG MANE Select	ENSP00000362690.4:p.Ser143MetfsTer?
ENST00000373587.3:c.40-261_40-260insTG	ENSP00000362689.3:n.40-261_40-260insTG
ENST00000373588.8:c.427_428insTG	ENSP00000362690.4:p.Ser143MetfsTer?
ENST00000455734.1:c.427_428insTG	ENSP00000393245.1:p.Ser143MetfsTer?
ENST00000620110.4:c.427_428insTG	ENSP00000483309.1:p.Ser143MetfsTer?
NM_004959.4:c.427_428insTG	NP_004950.2:p.Ser143MetfsTer?
XM_005251871.2:c.427_428insTG	XP_005251928.1:p.Ser143MetfsTer?
XM_005251872.3:c.166_167insTG	XP_005251929.1:p.Ser56MetfsTer?
XM_011518455.1:c.427_428insTG	XP_011516757.1:p.Ser143MetfsTer?
XM_011518456.1:c.427_428insTG	XP_011516758.1:p.Ser143MetfsTer?
NM_004959.5:c.427_428insTG MANE Select	NP_004950.2:p.Ser143MetfsTer?