Canonical Allele Identifier: CA2685657518

Gene: ASB10

Linked Data

• gnomAD v4: 7-151186530-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186532del , CM000669.2:g.151186532del	GRCh38
NC_000007.13:g.150883619del , CM000669.1:g.150883619del	GRCh37
NC_000007.12:g.150514552del	NCBI36
NG_017016.1:g.6302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.445del MANE Select	ENSP00000391137.2:p.Arg149AlafsTer?
ENST00000275838.5:c.445del	ENSP00000275838.1:p.Arg149AlafsTer?
ENST00000377867.7:c.400del	ENSP00000367098.3:p.Arg134AlafsTer?
ENST00000420175.2:c.445del	ENSP00000391137.2:p.Arg149AlafsTer?
NM_001142459.1:c.445del	NP_001135931.2:p.Arg149AlafsTer?
NM_001142460.1:c.445del	NP_001135932.2:p.Arg149AlafsTer?
NM_080871.3:c.400del	NP_543147.2:p.Arg134AlafsTer?
XM_005249949.3:c.580del	XP_005250006.1:p.Arg194AlafsTer?
NM_001142459.2:c.445del MANE Select	NP_001135931.2:p.Arg149AlafsTer?
NM_080871.4:c.400del	NP_543147.2:p.Arg134AlafsTer?