Canonical Allele Identifier: CA3045838123

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759662_68759663insGGTCCAAAGCCCCCTCCGC , CM000673.2:g.68759662_68759663insGGTCCAAAGCCCCCTCCGC	GRCh38
NC_000011.9:g.68527130_68527131insGGTCCAAAGCCCCCTCCGC , CM000673.1:g.68527130_68527131insGGTCCAAAGCCCCCTCCGC	GRCh37
NC_000011.8:g.68283706_68283707insGGTCCAAAGCCCCCTCCGC	NCBI36
NG_011801.1:g.87270_87271insCGGAGGGGGCTTTGGACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2143-1_2143insCGGAGGGGGCTTTGGACCG MANE Select	ENSP00000265641.4:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
ENST00000265641.9:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	ENSP00000265641.4:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
ENST00000376618.6:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	ENSP00000365803.2:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
ENST00000539743.5:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	ENSP00000446108.1:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
ENST00000540367.5:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	ENSP00000439084.1:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
NM_001031847.2:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	NP_001027017.1:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
NM_001876.3:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	NP_001867.2:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
XM_005273762.1:c.2239-1_2239insCGGAGGGGGCTTTGGACCG	XP_005273819.1:n.2239-1_2239insCGGAGGGGGCTTTGGACCG
XM_005273763.1:c.2239-1_2239insCGGAGGGGGCTTTGGACCG	XP_005273820.1:n.2239-1_2239insCGGAGGGGGCTTTGGACCG
XM_005273762.3:c.2239-1_2239insCGGAGGGGGCTTTGGACCG	XP_005273819.1:n.2239-1_2239insCGGAGGGGGCTTTGGACCG
XM_017017220.1:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	XP_016872709.1:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
NM_001876.4:c.2143-1_2143insCGGAGGGGGCTTTGGACCG MANE Select	NP_001867.2:n.2143-1_2143insCGGAGGGGGCTTTGGACCG
NM_001031847.3:c.2143-1_2143insCGGAGGGGGCTTTGGACCG	NP_001027017.1:n.2143-1_2143insCGGAGGGGGCTTTGGACCG