Canonical Allele Identifier: CA1217930448

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102858_197102859delinsCT , CM000663.2:g.197102858_197102859delinsCT	GRCh38
NC_000001.10:g.197071988_197071989delinsCT , CM000663.1:g.197071988_197071989delinsCT	GRCh37
NC_000001.9:g.195338611_195338612delinsCT	NCBI36
NG_015867.1:g.48836_48837delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6695_2108-6694delinsAG
ENST00000367409.9:c.6392_6393delinsAG MANE Select	ENSP00000356379.4:p.Gln2131=
ENST00000680265.1:c.6392_6393delinsAG	ENSP00000505384.1:p.Gln2131=
ENST00000680710.1:c.6392_6393delinsAG	ENSP00000506676.1:p.Gln2131=
ENST00000294732.11:c.4066-6695_4066-6694delinsAG	ENSP00000294732.7:n.4066-6695_4066-6694delinsAG
ENST00000367408.5:c.1816-6695_1816-6694delinsAG	ENSP00000356378.1:n.1816-6695_1816-6694delinsAG
ENST00000367409.8:c.6392_6393delinsAG	ENSP00000356379.4:p.Gln2131=
ENST00000612785.1:c.562-212_562-211delinsAG	ENSP00000479244.1:n.562-212_562-211delinsAG
NM_001206846.1:c.4066-6695_4066-6694delinsAG	NP_001193775.1:n.4066-6695_4066-6694delinsAG
NM_018136.4:c.6392_6393delinsAG	NP_060606.3:p.Gln2131=
NM_018136.5:c.6392_6393delinsAG MANE Select	NP_060606.3:p.Gln2131=
NM_001206846.2:c.4066-6695_4066-6694delinsAG	NP_001193775.1:n.4066-6695_4066-6694delinsAG