Canonical Allele Identifier: CA223365569

Gene: CPT1A

Linked Data

• dbSNP Id: rs754248800
• MyVariant Identifiers: chr11:g.68526850_68526851del (hg19) ; chr11:g.68759382_68759383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759384_68759385del , CM000673.2:g.68759384_68759385del	GRCh38
NC_000011.9:g.68526852_68526853del , CM000673.1:g.68526852_68526853del	GRCh37
NC_000011.8:g.68283428_68283429del	NCBI36
NG_011801.1:g.87549_87550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2235+186_2235+187del MANE Select	ENSP00000265641.4:n.2235+186_2235+187del
ENST00000265641.9:c.2235+186_2235+187del	ENSP00000265641.4:n.2235+186_2235+187del
ENST00000376618.6:c.2235+186_2235+187del	ENSP00000365803.2:n.2235+186_2235+187del
ENST00000539743.5:c.2235+186_2235+187del	ENSP00000446108.1:n.2235+186_2235+187del
ENST00000540367.5:c.2235+186_2235+187del	ENSP00000439084.1:n.2235+186_2235+187del
NM_001031847.2:c.2235+186_2235+187del	NP_001027017.1:n.2235+186_2235+187del
NM_001876.3:c.2235+186_2235+187del	NP_001867.2:n.2235+186_2235+187del
XM_005273762.1:c.2331+186_2331+187del	XP_005273819.1:n.2331+186_2331+187del
XM_005273763.1:c.2331+186_2331+187del	XP_005273820.1:n.2331+186_2331+187del
XM_005273762.3:c.2331+186_2331+187del	XP_005273819.1:n.2331+186_2331+187del
XM_017017220.1:c.2235+186_2235+187del	XP_016872709.1:n.2235+186_2235+187del
NM_001876.4:c.2235+186_2235+187del MANE Select	NP_001867.2:n.2235+186_2235+187del
NM_001031847.3:c.2235+186_2235+187del	NP_001027017.1:n.2235+186_2235+187del