Canonical Allele Identifier: CA2614734600

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68775514-C-CGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775514_68775515insGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA , CM000673.2:g.68775514_68775515insGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA	GRCh38
NC_000011.9:g.68542982_68542983insGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA , CM000673.1:g.68542982_68542983insGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA	GRCh37
NC_000011.8:g.68299558_68299559insGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTA	NCBI36
NG_011801.1:g.71417_71418insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC MANE Select	ENSP00000265641.4:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCG...
ENST00000265641.9:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	ENSP00000265641.4:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCG...
ENST00000376618.6:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	ENSP00000365803.2:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCG...
ENST00000539743.5:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	ENSP00000446108.1:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCG...
ENST00000540367.5:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	ENSP00000439084.1:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCG...
NM_001031847.2:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	NP_001027017.1:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACC...
NM_001876.3:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	NP_001867.2:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCG...
XM_005273762.1:c.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	XP_005273819.1:n.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACC...
XM_005273763.1:c.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	XP_005273820.1:n.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACC...
XM_005273762.3:c.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	XP_005273819.1:n.1555-83_1555-82insTAGGAGAAGCACAGCTCCCCCCGACC...
XM_017017220.1:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	XP_016872709.1:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACC...
NM_001876.4:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC MANE Select	NP_001867.2:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCG...
NM_001031847.3:c.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACCCCGGTCTCCGGGGGC	NP_001027017.1:n.1459-83_1459-82insTAGGAGAAGCACAGCTCCCCCCGACC...