Canonical Allele Identifier: CA1217939322

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124269_197124271delinsCTT , CM000663.2:g.197124269_197124271delinsCTT	GRCh38
NC_000001.10:g.197093399_197093401delinsCTT , CM000663.1:g.197093399_197093401delinsCTT	GRCh37
NC_000001.9:g.195360022_195360024delinsCTT	NCBI36
NG_015867.1:g.27424_27426delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1271_1273delinsAAG
ENST00000367409.9:c.3229_3231delinsAAG MANE Select	ENSP00000356379.4:p.Lys1077=
ENST00000680112.1:n.1285_1287delinsAAG
ENST00000680265.1:c.3229_3231delinsAAG	ENSP00000505384.1:p.Lys1077=
ENST00000680710.1:c.3229_3231delinsAAG	ENSP00000506676.1:p.Lys1077=
ENST00000681879.1:c.3229_3231delinsAAG	ENSP00000505363.1:p.Lys1077=
ENST00000294732.11:c.3229_3231delinsAAG	ENSP00000294732.7:p.Lys1077=
ENST00000367408.5:c.979_981delinsAAG	ENSP00000356378.1:p.Lys327=
ENST00000367409.8:c.3229_3231delinsAAG	ENSP00000356379.4:p.Lys1077=
ENST00000612785.1:c.561+19420_561+19422delinsAAG	ENSP00000479244.1:n.561+19420_561+19422delinsAAG
NM_001206846.1:c.3229_3231delinsAAG	NP_001193775.1:p.Lys1077=
NM_018136.4:c.3229_3231delinsAAG	NP_060606.3:p.Lys1077=
NM_018136.5:c.3229_3231delinsAAG MANE Select	NP_060606.3:p.Lys1077=
NM_001206846.2:c.3229_3231delinsAAG	NP_001193775.1:p.Lys1077=