Canonical Allele Identifier: CA422807249

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197073232_197073233insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104102_197104103insA , CM000663.2:g.197104102_197104103insA	GRCh38
NC_000001.10:g.197073232_197073233insA , CM000663.1:g.197073232_197073233insA	GRCh37
NC_000001.9:g.195339855_195339856insA	NCBI36
NG_015867.1:g.47592_47593insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7939_2108-7938insT
ENST00000367409.9:c.5148_5149insT MANE Select	ENSP00000356379.4:p.Ile1717TyrfsTer24
ENST00000680265.1:c.5148_5149insT	ENSP00000505384.1:p.Ile1717TyrfsTer24
ENST00000680710.1:c.5148_5149insT	ENSP00000506676.1:p.Ile1717TyrfsTer24
ENST00000294732.11:c.4066-7939_4066-7938insT	ENSP00000294732.7:n.4066-7939_4066-7938insT
ENST00000367408.5:c.1816-7939_1816-7938insT	ENSP00000356378.1:n.1816-7939_1816-7938insT
ENST00000367409.8:c.5148_5149insT	ENSP00000356379.4:p.Ile1717TyrfsTer24
ENST00000612785.1:c.562-1456_562-1455insT	ENSP00000479244.1:n.562-1456_562-1455insT
NM_001206846.1:c.4066-7939_4066-7938insT	NP_001193775.1:n.4066-7939_4066-7938insT
NM_018136.4:c.5148_5149insT	NP_060606.3:p.Ile1717TyrfsTer24
NM_018136.5:c.5148_5149insT MANE Select	NP_060606.3:p.Ile1717TyrfsTer24
NM_001206846.2:c.4066-7939_4066-7938insT	NP_001193775.1:n.4066-7939_4066-7938insT