Canonical Allele Identifier: CA916374729

Gene: ASPM

Linked Data

• dbSNP Id: rs1571611686
• gnomAD v3: 1-197117729-TCTTA-T
• gnomAD v4: 1-197117729-TCTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117734_197117737del , CM000663.2:g.197117734_197117737del	GRCh38
NC_000001.10:g.197086864_197086867del , CM000663.1:g.197086864_197086867del	GRCh37
NC_000001.9:g.195353487_195353490del	NCBI36
NG_015867.1:g.33962_33965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2107+56_2107+59del
ENST00000367409.9:c.4065+56_4065+59del MANE Select	ENSP00000356379.4:n.4065+56_4065+59del
ENST00000680265.1:c.4065+56_4065+59del	ENSP00000505384.1:n.4065+56_4065+59del
ENST00000680710.1:c.4065+56_4065+59del	ENSP00000506676.1:n.4065+56_4065+59del
ENST00000681879.1:c.4113+56_4113+59del	ENSP00000505363.1:n.4113+56_4113+59del
ENST00000294732.11:c.4065+56_4065+59del	ENSP00000294732.7:n.4065+56_4065+59del
ENST00000367408.5:c.1815+56_1815+59del	ENSP00000356378.1:n.1815+56_1815+59del
ENST00000367409.8:c.4065+56_4065+59del	ENSP00000356379.4:n.4065+56_4065+59del
ENST00000612785.1:c.562-15086_562-15083del	ENSP00000479244.1:n.562-15086_562-15083del
NM_001206846.1:c.4065+56_4065+59del	NP_001193775.1:n.4065+56_4065+59del
NM_018136.4:c.4065+56_4065+59del	NP_060606.3:n.4065+56_4065+59del
NM_018136.5:c.4065+56_4065+59del MANE Select	NP_060606.3:n.4065+56_4065+59del
NM_001206846.2:c.4065+56_4065+59del	NP_001193775.1:n.4065+56_4065+59del