Canonical Allele Identifier: CA4573957

Gene: ASB10

Linked Data

• dbSNP Id: rs751516602
• ExAC: 7:150883993 C / CGCGAGGAT
• gnomAD v2: 7-150883993-C-CGCGAGGAT
• gnomAD v4: 7-151186906-C-CGCGAGGAT
• MyVariant Identifiers: chr7:g.150883993_150883994insGCGAGGAT (hg19) ; chr7:g.151186906_151186907insGCGAGGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186910_151186917dup , CM000669.2:g.151186910_151186917dup	GRCh38
NC_000007.13:g.150883997_150884004dup , CM000669.1:g.150883997_150884004dup	GRCh37
NC_000007.12:g.150514930_150514937dup	NCBI36
NG_017016.1:g.5919_5926dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000420175.3:c.217_224dup MANE Select	ENSP00000391137.2:p.Asp76SerfsTer?
ENST00000275838.5:c.217_224dup	ENSP00000275838.1:p.Asp76SerfsTer?
ENST00000377867.7:c.272-255_272-248dup	ENSP00000367098.3:n.272-255_272-248dup
ENST00000415615.1:c.*261_*268dup	ENSP00000410871.1:n.*261_*268dup
ENST00000420175.2:c.217_224dup	ENSP00000391137.2:p.Asp76SerfsTer?
NM_001142459.1:c.217_224dup	NP_001135931.2:p.Asp76SerfsTer?
NM_001142460.1:c.217_224dup	NP_001135932.2:p.Asp76SerfsTer?
NM_080871.3:c.272-255_272-248dup	NP_543147.2:n.272-255_272-248dup
XM_005249949.3:c.352_359dup	XP_005250006.1:p.Asp121SerfsTer?
NM_001142459.2:c.217_224dup MANE Select	NP_001135931.2:p.Asp76SerfsTer?
NM_080871.4:c.272-255_272-248dup	NP_543147.2:n.272-255_272-248dup