Canonical Allele Identifier: CA223365568

Gene: CPT1A

Linked Data

• dbSNP Id: rs981362878
• gnomAD v3: 11-68759374-GAC-G
• gnomAD v4: 11-68759374-GAC-G
• MyVariant Identifiers: chr11:g.68526843_68526844del (hg19) ; chr11:g.68759375_68759376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759376_68759377del , CM000673.2:g.68759376_68759377del	GRCh38
NC_000011.9:g.68526844_68526845del , CM000673.1:g.68526844_68526845del	GRCh37
NC_000011.8:g.68283420_68283421del	NCBI36
NG_011801.1:g.87556_87557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2235+193_2235+194del MANE Select	ENSP00000265641.4:n.2235+193_2235+194del
ENST00000265641.9:c.2235+193_2235+194del	ENSP00000265641.4:n.2235+193_2235+194del
ENST00000376618.6:c.2235+193_2235+194del	ENSP00000365803.2:n.2235+193_2235+194del
ENST00000539743.5:c.2235+193_2235+194del	ENSP00000446108.1:n.2235+193_2235+194del
ENST00000540367.5:c.2235+193_2235+194del	ENSP00000439084.1:n.2235+193_2235+194del
NM_001031847.2:c.2235+193_2235+194del	NP_001027017.1:n.2235+193_2235+194del
NM_001876.3:c.2235+193_2235+194del	NP_001867.2:n.2235+193_2235+194del
XM_005273762.1:c.2331+193_2331+194del	XP_005273819.1:n.2331+193_2331+194del
XM_005273763.1:c.2331+193_2331+194del	XP_005273820.1:n.2331+193_2331+194del
XM_005273762.3:c.2331+193_2331+194del	XP_005273819.1:n.2331+193_2331+194del
XM_017017220.1:c.2235+193_2235+194del	XP_016872709.1:n.2235+193_2235+194del
NM_001876.4:c.2235+193_2235+194del MANE Select	NP_001867.2:n.2235+193_2235+194del
NM_001031847.3:c.2235+193_2235+194del	NP_001027017.1:n.2235+193_2235+194del