Canonical Allele Identifier: CA2649662066

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122253-TTTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122259_197122263del , CM000663.2:g.197122259_197122263del	GRCh38
NC_000001.10:g.197091389_197091393del , CM000663.1:g.197091389_197091393del	GRCh37
NC_000001.9:g.195358012_195358016del	NCBI36
NG_015867.1:g.29437_29441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1684_1688del
ENST00000367409.9:c.3642_3646del MANE Select	ENSP00000356379.4:p.Lys1215PhefsTer5
ENST00000680112.1:n.1698_1702del
ENST00000680265.1:c.3642_3646del	ENSP00000505384.1:p.Lys1215PhefsTer5
ENST00000680710.1:c.3642_3646del	ENSP00000506676.1:p.Lys1215PhefsTer5
ENST00000681879.1:c.3642_3646del	ENSP00000505363.1:p.Lys1215PhefsTer5
ENST00000294732.11:c.3642_3646del	ENSP00000294732.7:p.Lys1215PhefsTer5
ENST00000367408.5:c.1392_1396del	ENSP00000356378.1:p.Lys465PhefsTer5
ENST00000367409.8:c.3642_3646del	ENSP00000356379.4:p.Lys1215PhefsTer5
ENST00000612785.1:c.562-19611_562-19607del	ENSP00000479244.1:n.562-19611_562-19607del
NM_001206846.1:c.3642_3646del	NP_001193775.1:p.Lys1215PhefsTer5
NM_018136.4:c.3642_3646del	NP_060606.3:p.Lys1215PhefsTer5
NM_018136.5:c.3642_3646del MANE Select	NP_060606.3:p.Lys1215PhefsTer5
NM_001206846.2:c.3642_3646del	NP_001193775.1:p.Lys1215PhefsTer5