Canonical Allele Identifier: CA1217945502

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142616_197142621delinsGAAGAT , CM000663.2:g.197142616_197142621delinsGAAGAT	GRCh38
NC_000001.10:g.197111746_197111751delinsGAAGAT , CM000663.1:g.197111746_197111751delinsGAAGAT	GRCh37
NC_000001.9:g.195378369_195378374delinsGAAGAT	NCBI36
NG_015867.1:g.9074_9079delinsATCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1631_1636delinsATCTTC MANE Select	ENSP00000356379.4:p.Tyr544=
ENST00000679766.1:n.1848_1853delinsATCTTC
ENST00000680265.1:c.1631_1636delinsATCTTC	ENSP00000505384.1:p.Tyr544=
ENST00000680710.1:c.1631_1636delinsATCTTC	ENSP00000506676.1:p.Tyr544=
ENST00000681879.1:c.1631_1636delinsATCTTC	ENSP00000505363.1:p.Tyr544=
ENST00000294732.11:c.1631_1636delinsATCTTC	ENSP00000294732.7:p.Tyr544=
ENST00000367409.8:c.1631_1636delinsATCTTC	ENSP00000356379.4:p.Tyr544=
ENST00000612785.1:c.561+1070_561+1075delinsATCTTC	ENSP00000479244.1:n.561+1070_561+1075delinsATCTTC
NM_001206846.1:c.1631_1636delinsATCTTC	NP_001193775.1:p.Tyr544=
NM_018136.4:c.1631_1636delinsATCTTC	NP_060606.3:p.Tyr544=
NM_018136.5:c.1631_1636delinsATCTTC MANE Select	NP_060606.3:p.Tyr544=
NM_001206846.2:c.1631_1636delinsATCTTC	NP_001193775.1:p.Tyr544=