Canonical Allele Identifier: CA1310101

Gene: ASPM

Linked Data

• dbSNP Id: rs748104142
• ExAC: 1:197091283 ACTTAC / A
• gnomAD v2: 1-197091283-ACTTAC-A
• gnomAD v4: 1-197122153-ACTTAC-A
• MyVariant Identifiers: chr1:g.197091284_197091288del (hg19) ; chr1:g.197122154_197122158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122157_197122161del , CM000663.2:g.197122157_197122161del	GRCh38
NC_000001.10:g.197091287_197091291del , CM000663.1:g.197091287_197091291del	GRCh37
NC_000001.9:g.195357910_195357914del	NCBI36
NG_015867.1:g.29537_29541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1783+1_1783+5del
ENST00000367409.9:c.3741+1_3741+5del
ENST00000680112.1:n.1797+1_1797+5del
ENST00000680265.1:c.3741+1_3741+5del
ENST00000680710.1:c.3741+1_3741+5del
ENST00000681879.1:c.3741+1_3741+5del
ENST00000294732.11:c.3741+1_3741+5del
ENST00000367408.5:c.1491+1_1491+5del
ENST00000367409.8:c.3741+1_3741+5del
ENST00000612785.1:c.562-19511_562-19507del	ENSP00000479244.1:n.562-19511_562-19507del
NM_001206846.1:c.3741+1_3741+5del
NM_018136.4:c.3741+1_3741+5del
NM_018136.5:c.3741+1_3741+5del
NM_001206846.2:c.3741+1_3741+5del