Canonical Allele Identifier: CA1217930489

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102969_197102975delinsCTTCAAA , CM000663.2:g.197102969_197102975delinsCTTCAAA	GRCh38
NC_000001.10:g.197072099_197072105delinsCTTCAAA , CM000663.1:g.197072099_197072105delinsCTTCAAA	GRCh37
NC_000001.9:g.195338722_195338728delinsCTTCAAA	NCBI36
NG_015867.1:g.48720_48726delinsTTTGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-6811_2108-6805delinsTTTGAAG
ENST00000367409.9:c.6276_6282delinsTTTGAAG MANE Select	ENSP00000356379.4:p.Asn2092=
ENST00000680265.1:c.6276_6282delinsTTTGAAG	ENSP00000505384.1:p.Asn2092=
ENST00000680710.1:c.6276_6282delinsTTTGAAG	ENSP00000506676.1:p.Asn2092=
ENST00000294732.11:c.4066-6811_4066-6805delinsTTTGAAG	ENSP00000294732.7:n.4066-6811_4066-6805de...
ENST00000367408.5:c.1816-6811_1816-6805delinsTTTGAAG	ENSP00000356378.1:n.1816-6811_1816-6805de...
ENST00000367409.8:c.6276_6282delinsTTTGAAG	ENSP00000356379.4:p.Asn2092=
ENST00000612785.1:c.562-328_562-322delinsTTTGAAG	ENSP00000479244.1:n.562-328_562-322delins...
NM_001206846.1:c.4066-6811_4066-6805delinsTTTGAAG	NP_001193775.1:n.4066-6811_4066-6805delin...
NM_018136.4:c.6276_6282delinsTTTGAAG	NP_060606.3:p.Asn2092=
NM_018136.5:c.6276_6282delinsTTTGAAG MANE Select	NP_060606.3:p.Asn2092=
NM_001206846.2:c.4066-6811_4066-6805delinsTTTGAAG	NP_001193775.1:n.4066-6811_4066-6805delin...