Canonical Allele Identifier: CA528534999

Gene: ASPM

Linked Data

• dbSNP Id: rs1411935776
• gnomAD v2: 1-197071965-A-ATTGTATGGTAACTTATTCTTGACTGATGCATTTT
• gnomAD v4: 1-197102835-A-ATTGTATGGTAACTTATTCTTGACTGATGCATTTT
• MyVariant Identifiers: chr1:g.197071965_197071966insTTGTATGGTAACTTATTCTTGACTGATGCATTTT (hg19) ; chr1:g.197102835_197102836insTTGTATGGTAACTTATTCTTGACTGATGCATTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102836_197102869dup , CM000663.2:g.197102836_197102869dup	GRCh38
NC_000001.10:g.197071966_197071999dup , CM000663.1:g.197071966_197071999dup	GRCh37
NC_000001.9:g.195338589_195338622dup	NCBI36
NG_015867.1:g.48826_48859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6705_2108-6672dup
ENST00000367409.9:c.6382_6415dup MANE Select	ENSP00000356379.4:p.Met2139LysfsTer24
ENST00000680265.1:c.6382_6415dup	ENSP00000505384.1:p.Met2139LysfsTer24
ENST00000680710.1:c.6382_6415dup	ENSP00000506676.1:p.Met2139LysfsTer24
ENST00000294732.11:c.4066-6705_4066-6672dup	ENSP00000294732.7:n.4066-6705_4066-6672dup
ENST00000367408.5:c.1816-6705_1816-6672dup	ENSP00000356378.1:n.1816-6705_1816-6672dup
ENST00000367409.8:c.6382_6415dup	ENSP00000356379.4:p.Met2139LysfsTer24
ENST00000612785.1:c.562-222_562-189dup	ENSP00000479244.1:n.562-222_562-189dup
NM_001206846.1:c.4066-6705_4066-6672dup	NP_001193775.1:n.4066-6705_4066-6672dup
NM_018136.4:c.6382_6415dup	NP_060606.3:p.Met2139LysfsTer24
NM_018136.5:c.6382_6415dup MANE Select	NP_060606.3:p.Met2139LysfsTer24
NM_001206846.2:c.4066-6705_4066-6672dup	NP_001193775.1:n.4066-6705_4066-6672dup