Canonical Allele Identifier: CA2649661678

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102613-TTTAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102617_197102621del , CM000663.2:g.197102617_197102621del	GRCh38
NC_000001.10:g.197071747_197071751del , CM000663.1:g.197071747_197071751del	GRCh37
NC_000001.9:g.195338370_195338374del	NCBI36
NG_015867.1:g.49077_49081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6454_2108-6450del
ENST00000367409.9:c.6633_6637del MANE Select	ENSP00000356379.4:p.Leu2212GlufsTer24
ENST00000680265.1:c.6633_6637del	ENSP00000505384.1:p.Leu2212GlufsTer24
ENST00000680710.1:c.6633_6637del	ENSP00000506676.1:p.Leu2212GlufsTer24
ENST00000294732.11:c.4066-6454_4066-6450del	ENSP00000294732.7:n.4066-6454_4066-6450del
ENST00000367408.5:c.1816-6454_1816-6450del	ENSP00000356378.1:n.1816-6454_1816-6450del
ENST00000367409.8:c.6633_6637del	ENSP00000356379.4:p.Leu2212GlufsTer24
ENST00000612785.1:c.591_595del	ENSP00000479244.1:p.Leu198GlufsTer24
NM_001206846.1:c.4066-6454_4066-6450del	NP_001193775.1:n.4066-6454_4066-6450del
NM_018136.4:c.6633_6637del	NP_060606.3:p.Leu2212GlufsTer24
NM_018136.5:c.6633_6637del MANE Select	NP_060606.3:p.Leu2212GlufsTer24
NM_001206846.2:c.4066-6454_4066-6450del	NP_001193775.1:n.4066-6454_4066-6450del