Canonical Allele Identifier: CA599991978

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 934646
• ClinVar RCV Id: RCV001203078
• dbSNP Id: rs1319341024
• gnomAD v2: 11-68571482-CTT-C
• gnomAD v4: 11-68804014-CTT-C
• MyVariant Identifiers: chr11:g.68571483_68571484del (hg19) ; chr11:g.68804015_68804016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804016_68804017del , CM000673.2:g.68804016_68804017del	GRCh38
NC_000011.9:g.68571484_68571485del , CM000673.1:g.68571484_68571485del	GRCh37
NC_000011.8:g.68328060_68328061del	NCBI36
NG_011801.1:g.42916_42917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.539_540del MANE Select	ENSP00000265641.4:p.Lys180ArgfsTer?
ENST00000265641.9:c.539_540del	ENSP00000265641.4:p.Lys180ArgfsTer?
ENST00000376618.6:c.539_540del	ENSP00000365803.2:p.Lys180ArgfsTer?
ENST00000539743.5:c.539_540del	ENSP00000446108.1:p.Lys180ArgfsTer?
ENST00000540367.5:c.539_540del	ENSP00000439084.1:p.Lys180ArgfsTer?
NM_001031847.2:c.539_540del	NP_001027017.1:p.Lys180ArgfsTer?
NM_001876.3:c.539_540del	NP_001867.2:p.Lys180ArgfsTer?
XM_005273762.1:c.635_636del	XP_005273819.1:p.Lys212ArgfsTer?
XM_005273763.1:c.635_636del	XP_005273820.1:p.Lys212ArgfsTer?
XM_005273762.3:c.635_636del	XP_005273819.1:p.Lys212ArgfsTer?
XM_017017220.1:c.539_540del	XP_016872709.1:p.Lys180ArgfsTer?
NM_001876.4:c.539_540del MANE Select	NP_001867.2:p.Lys180ArgfsTer?
NM_001031847.3:c.539_540del	NP_001027017.1:p.Lys180ArgfsTer?