Canonical Allele Identifier: CA1217946421

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143252_197143258delinsATTCTAG , CM000663.2:g.197143252_197143258delinsATTCTAG	GRCh38
NC_000001.10:g.197112382_197112388delinsATTCTAG , CM000663.1:g.197112382_197112388delinsATTCTAG	GRCh37
NC_000001.9:g.195379005_195379011delinsATTCTAG	NCBI36
NG_015867.1:g.8437_8443delinsCTAGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.994_1000delinsCTAGAAT MANE Select	ENSP00000356379.4:p.Leu332=
ENST00000679766.1:n.1211_1217delinsCTAGAAT
ENST00000680265.1:c.994_1000delinsCTAGAAT	ENSP00000505384.1:p.Leu332=
ENST00000680710.1:c.994_1000delinsCTAGAAT	ENSP00000506676.1:p.Leu332=
ENST00000681879.1:c.994_1000delinsCTAGAAT	ENSP00000505363.1:p.Leu332=
ENST00000294732.11:c.994_1000delinsCTAGAAT	ENSP00000294732.7:p.Leu332=
ENST00000367409.8:c.994_1000delinsCTAGAAT	ENSP00000356379.4:p.Leu332=
ENST00000612785.1:c.561+433_561+439delinsCTAGAAT	ENSP00000479244.1:n.561+433_561+439delinsCTAGAAT
NM_001206846.1:c.994_1000delinsCTAGAAT	NP_001193775.1:p.Leu332=
NM_018136.4:c.994_1000delinsCTAGAAT	NP_060606.3:p.Leu332=
NM_018136.5:c.994_1000delinsCTAGAAT MANE Select	NP_060606.3:p.Leu332=
NM_001206846.2:c.994_1000delinsCTAGAAT	NP_001193775.1:p.Leu332=