Canonical Allele Identifier: CA1217938608

Gene: ASPM

Linked Data

• dbSNP Id: rs1657943564
• gnomAD v4: 1-197122501-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122505_197122506del , CM000663.2:g.197122505_197122506del	GRCh38
NC_000001.10:g.197091635_197091636del , CM000663.1:g.197091635_197091636del	GRCh37
NC_000001.9:g.195358258_195358259del	NCBI36
NG_015867.1:g.29192_29193del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1525_1526del
ENST00000367409.9:c.3483_3484del MANE Select	ENSP00000356379.4:p.Ile1161MetfsTer23
ENST00000680112.1:n.1539_1540del
ENST00000680265.1:c.3483_3484del	ENSP00000505384.1:p.Ile1161MetfsTer23
ENST00000680710.1:c.3483_3484del	ENSP00000506676.1:p.Ile1161MetfsTer23
ENST00000681879.1:c.3483_3484del	ENSP00000505363.1:p.Ile1161MetfsTer23
ENST00000294732.11:c.3483_3484del	ENSP00000294732.7:p.Ile1161MetfsTer23
ENST00000367408.5:c.1233_1234del	ENSP00000356378.1:p.Ile411MetfsTer23
ENST00000367409.8:c.3483_3484del	ENSP00000356379.4:p.Ile1161MetfsTer23
ENST00000612785.1:c.562-19856_562-19855del	ENSP00000479244.1:n.562-19856_562-19855de...
NM_001206846.1:c.3483_3484del	NP_001193775.1:p.Ile1161MetfsTer23
NM_018136.4:c.3483_3484del	NP_060606.3:p.Ile1161MetfsTer23
NM_018136.5:c.3483_3484del MANE Select	NP_060606.3:p.Ile1161MetfsTer23
NM_001206846.2:c.3483_3484del	NP_001193775.1:p.Ile1161MetfsTer23