Canonical Allele Identifier: CA1217929940

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101475_197101480delinsCTTTTT , CM000663.2:g.197101475_197101480delinsCTTTTT	GRCh38
NC_000001.10:g.197070605_197070610delinsCTTTTT , CM000663.1:g.197070605_197070610delinsCTTTTT	GRCh37
NC_000001.9:g.195337228_195337233delinsCTTTTT	NCBI36
NG_015867.1:g.50215_50220delinsAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5316_2108-5311delinsAAAAAG
ENST00000367409.9:c.7771_7776delinsAAAAAG MANE Select	ENSP00000356379.4:p.Lys2591=
ENST00000680265.1:c.7771_7776delinsAAAAAG	ENSP00000505384.1:p.Lys2591=
ENST00000680710.1:c.7771_7776delinsAAAAAG	ENSP00000506676.1:p.Lys2591=
ENST00000294732.11:c.4066-5316_4066-5311delinsAAAAAG	ENSP00000294732.7:n.4066-5316_4066-5311delinsAAAAAG
ENST00000367408.5:c.1816-5316_1816-5311delinsAAAAAG	ENSP00000356378.1:n.1816-5316_1816-5311delinsAAAAAG
ENST00000367409.8:c.7771_7776delinsAAAAAG	ENSP00000356379.4:p.Lys2591=
ENST00000612785.1:c.1729_1734delinsAAAAAG	ENSP00000479244.1:p.Lys577=
NM_001206846.1:c.4066-5316_4066-5311delinsAAAAAG	NP_001193775.1:n.4066-5316_4066-5311delinsAAAAAG
NM_018136.4:c.7771_7776delinsAAAAAG	NP_060606.3:p.Lys2591=
NM_018136.5:c.7771_7776delinsAAAAAG MANE Select	NP_060606.3:p.Lys2591=
NM_001206846.2:c.4066-5316_4066-5311delinsAAAAAG	NP_001193775.1:n.4066-5316_4066-5311delinsAAAAAG