Canonical Allele Identifier: CA2580084755

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1723940
• ClinVar RCV Id: RCV002306495

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807503_68807504insCACCAAGA , CM000673.2:g.68807503_68807504insCACCAAGA	GRCh38
NC_000011.9:g.68574971_68574972insCACCAAGA , CM000673.1:g.68574971_68574972insCACCAAGA	GRCh37
NC_000011.8:g.68331547_68331548insCACCAAGA	NCBI36
NG_011801.1:g.39428_39429insTCTTGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.416_417insTCTTGGTG MANE Select	ENSP00000265641.4:p.Glu139AspfsTer8
ENST00000265641.9:c.416_417insTCTTGGTG	ENSP00000265641.4:p.Glu139AspfsTer8
ENST00000376618.6:c.416_417insTCTTGGTG	ENSP00000365803.2:p.Glu139AspfsTer8
ENST00000539743.5:c.416_417insTCTTGGTG	ENSP00000446108.1:p.Glu139AspfsTer8
ENST00000540367.5:c.416_417insTCTTGGTG	ENSP00000439084.1:p.Glu139AspfsTer8
NM_001031847.2:c.416_417insTCTTGGTG	NP_001027017.1:p.Glu139AspfsTer8
NM_001876.3:c.416_417insTCTTGGTG	NP_001867.2:p.Glu139AspfsTer8
XM_005273762.1:c.512_513insTCTTGGTG	XP_005273819.1:p.Glu171AspfsTer8
XM_005273763.1:c.512_513insTCTTGGTG	XP_005273820.1:p.Glu171AspfsTer8
XM_005273762.3:c.512_513insTCTTGGTG	XP_005273819.1:p.Glu171AspfsTer8
XM_017017220.1:c.416_417insTCTTGGTG	XP_016872709.1:p.Glu139AspfsTer8
NM_001876.4:c.416_417insTCTTGGTG MANE Select	NP_001867.2:p.Glu139AspfsTer8
NM_001031847.3:c.416_417insTCTTGGTG	NP_001027017.1:p.Glu139AspfsTer8