Canonical Allele Identifier: CA2695211099

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500643_124500648delinsGCCTTCTTCT , CM000671.2:g.124500643_124500648delinsGCCTTCTTCT	GRCh38
NC_000009.11:g.127262922_127262927delinsGCCTTCTTCT , CM000671.1:g.127262922_127262927delinsGCCTTCTTCT	GRCh37
NC_000009.10:g.126302743_126302748delinsGCCTTCTTCT	NCBI36
NG_008176.1:g.11773_11778delinsAGAAGAAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.312_317delinsAGAAGAAGGC MANE Select	ENSP00000362690.4:p.Leu105GlufsTer?
ENST00000373587.3:c.39+300_39+305delinsAGAAGAAGGC	ENSP00000362689.3:n.39+300_39+305delinsAGAAGAAGGC
ENST00000373588.8:c.312_317delinsAGAAGAAGGC	ENSP00000362690.4:p.Leu105GlufsTer?
ENST00000455734.1:c.312_317delinsAGAAGAAGGC	ENSP00000393245.1:p.Leu105GlufsTer?
ENST00000620110.4:c.312_317delinsAGAAGAAGGC	ENSP00000483309.1:p.Leu105GlufsTer?
NM_004959.4:c.312_317delinsAGAAGAAGGC	NP_004950.2:p.Leu105GlufsTer?
XM_005251871.2:c.312_317delinsAGAAGAAGGC	XP_005251928.1:p.Leu105GlufsTer?
XM_005251872.3:c.51_56delinsAGAAGAAGGC	XP_005251929.1:p.Leu18GlufsTer?
XM_011518455.1:c.312_317delinsAGAAGAAGGC	XP_011516757.1:p.Leu105GlufsTer?
XM_011518456.1:c.312_317delinsAGAAGAAGGC	XP_011516758.1:p.Leu105GlufsTer?
NM_004959.5:c.312_317delinsAGAAGAAGGC MANE Select	NP_004950.2:p.Leu105GlufsTer?