Canonical Allele Identifier: CA2586964496

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101355_197101356del , CM000663.2:g.197101355_197101356del	GRCh38
NC_000001.10:g.197070485_197070486del , CM000663.1:g.197070485_197070486del	GRCh37
NC_000001.9:g.195337108_195337109del	NCBI36
NG_015867.1:g.50340_50341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5191_2108-5190del
ENST00000367409.9:c.7896_7897del MANE Select	ENSP00000356379.4:p.Lys2633AlafsTer3
ENST00000680265.1:c.7896_7897del	ENSP00000505384.1:p.Lys2633AlafsTer3
ENST00000680710.1:c.7896_7897del	ENSP00000506676.1:p.Lys2633AlafsTer3
ENST00000294732.11:c.4066-5191_4066-5190del	ENSP00000294732.7:n.4066-5191_4066-5190del
ENST00000367408.5:c.1816-5191_1816-5190del	ENSP00000356378.1:n.1816-5191_1816-5190del
ENST00000367409.8:c.7896_7897del	ENSP00000356379.4:p.Lys2633AlafsTer3
ENST00000612785.1:c.1854_1855del	ENSP00000479244.1:p.Lys619AlafsTer3
NM_001206846.1:c.4066-5191_4066-5190del	NP_001193775.1:n.4066-5191_4066-5190del
NM_018136.4:c.7896_7897del	NP_060606.3:p.Lys2633AlafsTer3
NM_018136.5:c.7896_7897del MANE Select	NP_060606.3:p.Lys2633AlafsTer3
NM_001206846.2:c.4066-5191_4066-5190del	NP_001193775.1:n.4066-5191_4066-5190del