Canonical Allele Identifier: CA2685657629

Gene: ASB10

Linked Data

• gnomAD v4: 7-151186983-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186985_151186986dup , CM000669.2:g.151186985_151186986dup	GRCh38
NC_000007.13:g.150884072_150884073dup , CM000669.1:g.150884072_150884073dup	GRCh37
NC_000007.12:g.150515005_150515006dup	NCBI36
NG_017016.1:g.5848_5849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.146_147dup MANE Select	ENSP00000391137.2:p.Thr50AlafsTer?
ENST00000275838.5:c.146_147dup	ENSP00000275838.1:p.Thr50AlafsTer?
ENST00000377867.7:c.272-326_272-325dup	ENSP00000367098.3:n.272-326_272-325dup
ENST00000415615.1:c.*190_*191dup	ENSP00000410871.1:n.*190_*191dup
ENST00000420175.2:c.146_147dup	ENSP00000391137.2:p.Thr50AlafsTer?
NM_001142459.1:c.146_147dup	NP_001135931.2:p.Thr50AlafsTer?
NM_001142460.1:c.146_147dup	NP_001135932.2:p.Thr50AlafsTer?
NM_080871.3:c.272-326_272-325dup	NP_543147.2:n.272-326_272-325dup
XM_005249949.3:c.281_282dup	XP_005250006.1:p.Thr95AlafsTer?
NM_001142459.2:c.146_147dup MANE Select	NP_001135931.2:p.Thr50AlafsTer?
NM_080871.4:c.272-326_272-325dup	NP_543147.2:n.272-326_272-325dup