Canonical Allele Identifier: CA2649664204

Gene: ASPM

Linked Data

• gnomAD v4: 1-197142634-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142635_197142636del , CM000663.2:g.197142635_197142636del	GRCh38
NC_000001.10:g.197111765_197111766del , CM000663.1:g.197111765_197111766del	GRCh37
NC_000001.9:g.195378388_195378389del	NCBI36
NG_015867.1:g.9059_9060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1616_1617del MANE Select	ENSP00000356379.4:p.Glu539GlyfsTer15
ENST00000679766.1:n.1833_1834del
ENST00000680265.1:c.1616_1617del	ENSP00000505384.1:p.Glu539GlyfsTer15
ENST00000680710.1:c.1616_1617del	ENSP00000506676.1:p.Glu539GlyfsTer15
ENST00000681879.1:c.1616_1617del	ENSP00000505363.1:p.Glu539GlyfsTer15
ENST00000294732.11:c.1616_1617del	ENSP00000294732.7:p.Glu539GlyfsTer15
ENST00000367409.8:c.1616_1617del	ENSP00000356379.4:p.Glu539GlyfsTer15
ENST00000612785.1:c.561+1055_561+1056del	ENSP00000479244.1:n.561+1055_561+1056del
NM_001206846.1:c.1616_1617del	NP_001193775.1:p.Glu539GlyfsTer15
NM_018136.4:c.1616_1617del	NP_060606.3:p.Glu539GlyfsTer15
NM_018136.5:c.1616_1617del MANE Select	NP_060606.3:p.Glu539GlyfsTer15
NM_001206846.2:c.1616_1617del	NP_001193775.1:p.Glu539GlyfsTer15