Canonical Allele Identifier: CA2649662083

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122285-T-TCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122285_197122286insCAAA , CM000663.2:g.197122285_197122286insCAAA	GRCh38
NC_000001.10:g.197091415_197091416insCAAA , CM000663.1:g.197091415_197091416insCAAA	GRCh37
NC_000001.9:g.195358038_195358039insCAAA	NCBI36
NG_015867.1:g.29409_29410insTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1656_1657insTTTG
ENST00000367409.9:c.3614_3615insTTTG MANE Select	ENSP00000356379.4:p.Tyr1206LeufsTer9
ENST00000680112.1:n.1670_1671insTTTG
ENST00000680265.1:c.3614_3615insTTTG	ENSP00000505384.1:p.Tyr1206LeufsTer9
ENST00000680710.1:c.3614_3615insTTTG	ENSP00000506676.1:p.Tyr1206LeufsTer9
ENST00000681879.1:c.3614_3615insTTTG	ENSP00000505363.1:p.Tyr1206LeufsTer9
ENST00000294732.11:c.3614_3615insTTTG	ENSP00000294732.7:p.Tyr1206LeufsTer9
ENST00000367408.5:c.1364_1365insTTTG	ENSP00000356378.1:p.Tyr456LeufsTer9
ENST00000367409.8:c.3614_3615insTTTG	ENSP00000356379.4:p.Tyr1206LeufsTer9
ENST00000612785.1:c.562-19639_562-19638insTTTG	ENSP00000479244.1:n.562-19639_562-19638insTTTG
NM_001206846.1:c.3614_3615insTTTG	NP_001193775.1:p.Tyr1206LeufsTer9
NM_018136.4:c.3614_3615insTTTG	NP_060606.3:p.Tyr1206LeufsTer9
NM_018136.5:c.3614_3615insTTTG MANE Select	NP_060606.3:p.Tyr1206LeufsTer9
NM_001206846.2:c.3614_3615insTTTG	NP_001193775.1:p.Tyr1206LeufsTer9