Canonical Allele Identifier: CA2580084732

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 2100194
• ClinVar RCV Id: RCV003033428

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68780659_68780665del , CM000673.2:g.68780659_68780665del	GRCh38
NC_000011.9:g.68548127_68548133del , CM000673.1:g.68548127_68548133del	GRCh37
NC_000011.8:g.68304703_68304709del	NCBI36
NG_011801.1:g.66269_66275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1435_1441del MANE Select	ENSP00000265641.4:p.Pro479TrpfsTer?
ENST00000265641.9:c.1435_1441del	ENSP00000265641.4:p.Pro479TrpfsTer?
ENST00000376618.6:c.1435_1441del	ENSP00000365803.2:p.Pro479TrpfsTer?
ENST00000539743.5:c.1435_1441del	ENSP00000446108.1:p.Pro479TrpfsTer?
ENST00000540367.5:c.1435_1441del	ENSP00000439084.1:p.Pro479TrpfsTer?
NM_001031847.2:c.1435_1441del	NP_001027017.1:p.Pro479TrpfsTer?
NM_001876.3:c.1435_1441del	NP_001867.2:p.Pro479TrpfsTer?
XM_005273762.1:c.1531_1537del	XP_005273819.1:p.Pro511TrpfsTer?
XM_005273763.1:c.1531_1537del	XP_005273820.1:p.Pro511TrpfsTer?
XM_005273762.3:c.1531_1537del	XP_005273819.1:p.Pro511TrpfsTer?
XM_017017220.1:c.1435_1441del	XP_016872709.1:p.Pro479TrpfsTer?
NM_001876.4:c.1435_1441del MANE Select	NP_001867.2:p.Pro479TrpfsTer?
NM_001031847.3:c.1435_1441del	NP_001027017.1:p.Pro479TrpfsTer?