Canonical Allele Identifier: CA2614730975

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68761499-CCAATACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68761500_68761506del , CM000673.2:g.68761500_68761506del	GRCh38
NC_000011.9:g.68528968_68528974del , CM000673.1:g.68528968_68528974del	GRCh37
NC_000011.8:g.68285544_68285550del	NCBI36
NG_011801.1:g.85426_85432del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.2028+29_2028+35del MANE Select	ENSP00000265641.4:n.2028+29_2028+35del
ENST00000265641.9:c.2028+29_2028+35del	ENSP00000265641.4:n.2028+29_2028+35del
ENST00000376618.6:c.2028+29_2028+35del	ENSP00000365803.2:n.2028+29_2028+35del
ENST00000539743.5:c.2028+29_2028+35del	ENSP00000446108.1:n.2028+29_2028+35del
ENST00000540367.5:c.2028+29_2028+35del	ENSP00000439084.1:n.2028+29_2028+35del
NM_001031847.2:c.2028+29_2028+35del	NP_001027017.1:n.2028+29_2028+35del
NM_001876.3:c.2028+29_2028+35del	NP_001867.2:n.2028+29_2028+35del
XM_005273762.1:c.2124+29_2124+35del	XP_005273819.1:n.2124+29_2124+35del
XM_005273763.1:c.2124+29_2124+35del	XP_005273820.1:n.2124+29_2124+35del
XM_005273762.3:c.2124+29_2124+35del	XP_005273819.1:n.2124+29_2124+35del
XM_017017220.1:c.2028+29_2028+35del	XP_016872709.1:n.2028+29_2028+35del
NM_001876.4:c.2028+29_2028+35del MANE Select	NP_001867.2:n.2028+29_2028+35del
NM_001031847.3:c.2028+29_2028+35del	NP_001027017.1:n.2028+29_2028+35del