Canonical Allele Identifier: CA679636500

Gene: CPT1A

Linked Data

• dbSNP Id: rs1348119282
• MyVariant Identifiers: chr11:g.68571365_68571373del (hg19) ; chr11:g.68803897_68803905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68803899_68803907del , CM000673.2:g.68803899_68803907del	GRCh38
NC_000011.9:g.68571367_68571375del , CM000673.1:g.68571367_68571375del	GRCh37
NC_000011.8:g.68327943_68327951del	NCBI36
NG_011801.1:g.43027_43035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.555+95_555+103del MANE Select	ENSP00000265641.4:n.555+95_555+103del
ENST00000265641.9:c.555+95_555+103del	ENSP00000265641.4:n.555+95_555+103del
ENST00000376618.6:c.555+95_555+103del	ENSP00000365803.2:n.555+95_555+103del
ENST00000539743.5:c.555+95_555+103del	ENSP00000446108.1:n.555+95_555+103del
ENST00000540367.5:c.555+95_555+103del	ENSP00000439084.1:n.555+95_555+103del
NM_001031847.2:c.555+95_555+103del	NP_001027017.1:n.555+95_555+103del
NM_001876.3:c.555+95_555+103del	NP_001867.2:n.555+95_555+103del
XM_005273762.1:c.651+95_651+103del	XP_005273819.1:n.651+95_651+103del
XM_005273763.1:c.651+95_651+103del	XP_005273820.1:n.651+95_651+103del
XM_005273762.3:c.651+95_651+103del	XP_005273819.1:n.651+95_651+103del
XM_017017220.1:c.555+95_555+103del	XP_016872709.1:n.555+95_555+103del
NM_001876.4:c.555+95_555+103del MANE Select	NP_001867.2:n.555+95_555+103del
NM_001031847.3:c.555+95_555+103del	NP_001027017.1:n.555+95_555+103del