Canonical Allele Identifier: CA2649662356

Gene: ASPM

Linked Data

• gnomAD v4: 1-197124158-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124160_197124161del , CM000663.2:g.197124160_197124161del	GRCh38
NC_000001.10:g.197093290_197093291del , CM000663.1:g.197093290_197093291del	GRCh37
NC_000001.9:g.195359913_195359914del	NCBI36
NG_015867.1:g.27535_27536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1382_1383del
ENST00000367409.9:c.3340_3341del MANE Select	ENSP00000356379.4:p.Lys1114ValfsTer14
ENST00000680112.1:n.1396_1397del
ENST00000680265.1:c.3340_3341del	ENSP00000505384.1:p.Lys1114ValfsTer14
ENST00000680710.1:c.3340_3341del	ENSP00000506676.1:p.Lys1114ValfsTer14
ENST00000681879.1:c.3340_3341del	ENSP00000505363.1:p.Lys1114ValfsTer14
ENST00000294732.11:c.3340_3341del	ENSP00000294732.7:p.Lys1114ValfsTer14
ENST00000367408.5:c.1090_1091del	ENSP00000356378.1:p.Lys364ValfsTer14
ENST00000367409.8:c.3340_3341del	ENSP00000356379.4:p.Lys1114ValfsTer14
ENST00000612785.1:c.561+19531_561+19532del	ENSP00000479244.1:n.561+19531_561+19532del
NM_001206846.1:c.3340_3341del	NP_001193775.1:p.Lys1114ValfsTer14
NM_018136.4:c.3340_3341del	NP_060606.3:p.Lys1114ValfsTer14
NM_018136.5:c.3340_3341del MANE Select	NP_060606.3:p.Lys1114ValfsTer14
NM_001206846.2:c.3340_3341del	NP_001193775.1:p.Lys1114ValfsTer14