Canonical Allele Identifier: CA2649661680

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102622-TTAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102625_197102629del , CM000663.2:g.197102625_197102629del	GRCh38
NC_000001.10:g.197071755_197071759del , CM000663.1:g.197071755_197071759del	GRCh37
NC_000001.9:g.195338378_195338382del	NCBI36
NG_015867.1:g.49068_49072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6463_2108-6459del
ENST00000367409.9:c.6624_6628del MANE Select	ENSP00000356379.4:p.Tyr2208Ter
ENST00000680265.1:c.6624_6628del	ENSP00000505384.1:p.Tyr2208Ter
ENST00000680710.1:c.6624_6628del	ENSP00000506676.1:p.Tyr2208Ter
ENST00000294732.11:c.4066-6463_4066-6459del	ENSP00000294732.7:n.4066-6463_4066-6459del
ENST00000367408.5:c.1816-6463_1816-6459del	ENSP00000356378.1:n.1816-6463_1816-6459del
ENST00000367409.8:c.6624_6628del	ENSP00000356379.4:p.Tyr2208Ter
ENST00000612785.1:c.582_586del	ENSP00000479244.1:p.Tyr194Ter
NM_001206846.1:c.4066-6463_4066-6459del	NP_001193775.1:n.4066-6463_4066-6459del
NM_018136.4:c.6624_6628del	NP_060606.3:p.Tyr2208Ter
NM_018136.5:c.6624_6628del MANE Select	NP_060606.3:p.Tyr2208Ter
NM_001206846.2:c.4066-6463_4066-6459del	NP_001193775.1:n.4066-6463_4066-6459del