Canonical Allele Identifier: CA223374169

Gene: CPT1A

Linked Data

• dbSNP Id: rs528239188
• gnomAD v2: 11-68549089-AAAAAT-A
• gnomAD v3: 11-68781621-AAAAAT-A
• gnomAD v4: 11-68781621-AAAAAT-A
• MyVariant Identifiers: chr11:g.68549090_68549094del (hg19) ; chr11:g.68781622_68781626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781636_68781640del , CM000673.2:g.68781636_68781640del	GRCh38
NC_000011.9:g.68549104_68549108del , CM000673.1:g.68549104_68549108del	GRCh37
NC_000011.8:g.68305680_68305684del	NCBI36
NG_011801.1:g.65306_65310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1352+145_1352+149del MANE Select	ENSP00000265641.4:n.1352+145_1352+149del
ENST00000265641.9:c.1352+145_1352+149del	ENSP00000265641.4:n.1352+145_1352+149del
ENST00000376618.6:c.1352+145_1352+149del	ENSP00000365803.2:n.1352+145_1352+149del
ENST00000539743.5:c.1352+145_1352+149del	ENSP00000446108.1:n.1352+145_1352+149del
ENST00000540367.5:c.1352+145_1352+149del	ENSP00000439084.1:n.1352+145_1352+149del
NM_001031847.2:c.1352+145_1352+149del	NP_001027017.1:n.1352+145_1352+149del
NM_001876.3:c.1352+145_1352+149del	NP_001867.2:n.1352+145_1352+149del
XM_005273762.1:c.1448+145_1448+149del	XP_005273819.1:n.1448+145_1448+149del
XM_005273763.1:c.1448+145_1448+149del	XP_005273820.1:n.1448+145_1448+149del
XM_005273762.3:c.1448+145_1448+149del	XP_005273819.1:n.1448+145_1448+149del
XM_017017220.1:c.1352+145_1352+149del	XP_016872709.1:n.1352+145_1352+149del
NM_001876.4:c.1352+145_1352+149del MANE Select	NP_001867.2:n.1352+145_1352+149del
NM_001031847.3:c.1352+145_1352+149del	NP_001027017.1:n.1352+145_1352+149del