Canonical Allele Identifier: CA835247399

Gene: ASB10

Linked Data

• dbSNP Id: rs34383739
• gnomAD v3: 7-151187179-C-CAGAGAG
• gnomAD v4: 7-151187179-C-CAGAGAG
• MyVariant Identifiers: chr7:g.150884266_150884267insAGAGAG (hg19) ; chr7:g.151187179_151187180insAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151187192_151187197dup , CM000669.2:g.151187192_151187197dup	GRCh38
NC_000007.13:g.150884279_150884284dup , CM000669.1:g.150884279_150884284dup	GRCh37
NC_000007.12:g.150515212_150515217dup	NCBI36
NG_017016.1:g.5648_5653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.-55_-50dup MANE Select	ENSP00000391137.2:n.-55_-50dup
ENST00000275838.5:c.-55_-50dup	ENSP00000275838.1:n.-55_-50dup
ENST00000377867.7:c.271+267_271+272dup	ENSP00000367098.3:n.271+267_271+272dup
ENST00000415615.1:c.*121+69_*121+74dup	ENSP00000410871.1:n.*121+69_*121+74dup
NM_001142459.1:c.-55_-50dup	NP_001135931.2:n.-55_-50dup
NM_001142460.1:c.-55_-50dup	NP_001135932.2:n.-55_-50dup
NM_080871.3:c.271+267_271+272dup	NP_543147.2:n.271+267_271+272dup
XM_005249949.3:c.81_86dup	XP_005250006.1:p.Leu29_Pro30insSerLeu
NM_001142459.2:c.-55_-50dup MANE Select	NP_001135931.2:n.-55_-50dup
NM_080871.4:c.271+267_271+272dup	NP_543147.2:n.271+267_271+272dup