Canonical Allele Identifier: CA1308986

Gene: ASPM

Linked Data

• dbSNP Id: rs756352237
• ExAC: 1:197062135 GTGCTTTCA / G
• gnomAD v2: 1-197062135-GTGCTTTCA-G
• gnomAD v3: 1-197093005-GTGCTTTCA-G
• gnomAD v4: 1-197093005-GTGCTTTCA-G
• MyVariant Identifiers: chr1:g.197062136_197062143del (hg19) ; chr1:g.197093007_197093014del (hg38) ; chr1:g.197093006_197093013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093007_197093014del , CM000663.2:g.197093007_197093014del	GRCh38
NC_000001.10:g.197062137_197062144del , CM000663.1:g.197062137_197062144del	GRCh37
NC_000001.9:g.195328760_195328767del	NCBI36
NG_015867.1:g.58682_58689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2581+39_2581+46del
ENST00000367409.9:c.9294+39_9294+46del MANE Select	ENSP00000356379.4:n.9294+39_9294+46del
ENST00000680265.1:c.9516+39_9516+46del	ENSP00000505384.1:n.9516+39_9516+46del
ENST00000680710.1:c.9294+39_9294+46del	ENSP00000506676.1:n.9294+39_9294+46del
ENST00000294732.11:c.4539+39_4539+46del	ENSP00000294732.7:n.4539+39_4539+46del
ENST00000367408.5:c.2289+39_2289+46del	ENSP00000356378.1:n.2289+39_2289+46del
ENST00000367409.8:c.9294+39_9294+46del	ENSP00000356379.4:n.9294+39_9294+46del
ENST00000612785.1:c.3252+39_3252+46del	ENSP00000479244.1:n.3252+39_3252+46del
NM_001206846.1:c.4539+39_4539+46del	NP_001193775.1:n.4539+39_4539+46del
NM_018136.4:c.9294+39_9294+46del	NP_060606.3:n.9294+39_9294+46del
NM_018136.5:c.9294+39_9294+46del MANE Select	NP_060606.3:n.9294+39_9294+46del
NM_001206846.2:c.4539+39_4539+46del	NP_001193775.1:n.4539+39_4539+46del