Canonical Allele Identifier: CA1143355888

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142986_197142994delinsGACTTGAGA , CM000663.2:g.197142986_197142994delinsGACTTGAGA	GRCh38
NC_000001.10:g.197112116_197112124delinsGACTTGAGA , CM000663.1:g.197112116_197112124delinsGACTTGAGA	GRCh37
NC_000001.9:g.195378739_195378747delinsGACTTGAGA	NCBI36
NG_015867.1:g.8701_8709delinsTCTCAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1258_1266delinsTCTCAAGTC MANE Select	ENSP00000356379.4:p.Ser420=
ENST00000679766.1:n.1475_1483delinsTCTCAAGTC
ENST00000680265.1:c.1258_1266delinsTCTCAAGTC	ENSP00000505384.1:p.Ser420=
ENST00000680710.1:c.1258_1266delinsTCTCAAGTC	ENSP00000506676.1:p.Ser420=
ENST00000681879.1:c.1258_1266delinsTCTCAAGTC	ENSP00000505363.1:p.Ser420=
ENST00000294732.11:c.1258_1266delinsTCTCAAGTC	ENSP00000294732.7:p.Ser420=
ENST00000367409.8:c.1258_1266delinsTCTCAAGTC	ENSP00000356379.4:p.Ser420=
ENST00000612785.1:c.561+697_561+705delinsTCTCAAGTC	ENSP00000479244.1:n.561+697_561+705delinsTCTCAAGTC
NM_001206846.1:c.1258_1266delinsTCTCAAGTC	NP_001193775.1:p.Ser420=
NM_018136.4:c.1258_1266delinsTCTCAAGTC	NP_060606.3:p.Ser420=
NM_018136.5:c.1258_1266delinsTCTCAAGTC MANE Select	NP_060606.3:p.Ser420=
NM_001206846.2:c.1258_1266delinsTCTCAAGTC	NP_001193775.1:p.Ser420=