Canonical Allele Identifier: CA729743556

Gene: ASPM

Linked Data

• dbSNP Id: rs1248554115
• gnomAD v3: 1-197123929-CAATT-C
• gnomAD v4: 1-197123929-CAATT-C
• MyVariant Identifiers: chr1:g.197093060_197093063del (hg19) ; chr1:g.197123930_197123933del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197123930_197123933del , CM000663.2:g.197123930_197123933del	GRCh38
NC_000001.10:g.197093060_197093063del , CM000663.1:g.197093060_197093063del	GRCh37
NC_000001.9:g.195359683_195359686del	NCBI36
NG_015867.1:g.27762_27765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1432+177_1432+180del
ENST00000367409.9:c.3390+177_3390+180del MANE Select	ENSP00000356379.4:n.3390+177_3390+180del
ENST00000680112.1:n.1446+177_1446+180del
ENST00000680265.1:c.3390+177_3390+180del	ENSP00000505384.1:n.3390+177_3390+180del
ENST00000680710.1:c.3390+177_3390+180del	ENSP00000506676.1:n.3390+177_3390+180del
ENST00000681879.1:c.3390+177_3390+180del	ENSP00000505363.1:n.3390+177_3390+180del
ENST00000294732.11:c.3390+177_3390+180del	ENSP00000294732.7:n.3390+177_3390+180del
ENST00000367408.5:c.1140+177_1140+180del	ENSP00000356378.1:n.1140+177_1140+180del
ENST00000367409.8:c.3390+177_3390+180del	ENSP00000356379.4:n.3390+177_3390+180del
ENST00000612785.1:c.561+19758_561+19761del	ENSP00000479244.1:n.561+19758_561+19761del
NM_001206846.1:c.3390+177_3390+180del	NP_001193775.1:n.3390+177_3390+180del
NM_018136.4:c.3390+177_3390+180del	NP_060606.3:n.3390+177_3390+180del
NM_018136.5:c.3390+177_3390+180del MANE Select	NP_060606.3:n.3390+177_3390+180del
NM_001206846.2:c.3390+177_3390+180del	NP_001193775.1:n.3390+177_3390+180del