Canonical Allele Identifier: CA2573629707

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124166_197124167insA , CM000663.2:g.197124166_197124167insA	GRCh38
NC_000001.10:g.197093296_197093297insA , CM000663.1:g.197093296_197093297insA	GRCh37
NC_000001.9:g.195359919_195359920insA	NCBI36
NG_015867.1:g.27528_27529insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1375_1376insT
ENST00000367409.9:c.3333_3334insT MANE Select	ENSP00000356379.4:p.Asn1112Ter
ENST00000680112.1:n.1389_1390insT
ENST00000680265.1:c.3333_3334insT	ENSP00000505384.1:p.Asn1112Ter
ENST00000680710.1:c.3333_3334insT	ENSP00000506676.1:p.Asn1112Ter
ENST00000681879.1:c.3333_3334insT	ENSP00000505363.1:p.Asn1112Ter
ENST00000294732.11:c.3333_3334insT	ENSP00000294732.7:p.Asn1112Ter
ENST00000367408.5:c.1083_1084insT	ENSP00000356378.1:p.Asn362Ter
ENST00000367409.8:c.3333_3334insT	ENSP00000356379.4:p.Asn1112Ter
ENST00000612785.1:c.561+19524_561+19525insT	ENSP00000479244.1:n.561+19524_561+19525insT
NM_001206846.1:c.3333_3334insT	NP_001193775.1:p.Asn1112Ter
NM_018136.4:c.3333_3334insT	NP_060606.3:p.Asn1112Ter
NM_018136.5:c.3333_3334insT MANE Select	NP_060606.3:p.Asn1112Ter
NM_001206846.2:c.3333_3334insT	NP_001193775.1:p.Asn1112Ter