Canonical Allele Identifier: CA599985102

Gene: CPT1A

Linked Data

• dbSNP Id: rs1256964612
• gnomAD v2: 11-68527241-A-ATCCAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAG
• gnomAD v3: 11-68759773-A-ATCCAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAG
• gnomAD v4: 11-68759773-A-ATCCAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAG
• MyVariant Identifiers: chr11:g.68527241_68527242insTCCAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAG (hg19) ; chr11:g.68759773_68759774insTCCAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759776_68759777insAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAGTCC , CM000673.2:g.68759776_68759777insAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAGTCC	GRCh38
NC_000011.9:g.68527244_68527245insAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAGTCC , CM000673.1:g.68527244_68527245insAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAGTCC	GRCh37
NC_000011.8:g.68283820_68283821insAGAAAATATTTTTCTGGCCAGGCGTGGTTGCTCACGCCTGTAGTCC	NCBI36
NG_011801.1:g.87158_87159insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA MANE Select	ENSP00000265641.4:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACG...
ENST00000265641.9:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	ENSP00000265641.4:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACG...
ENST00000376618.6:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	ENSP00000365803.2:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACG...
ENST00000539743.5:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	ENSP00000446108.1:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACG...
ENST00000540367.5:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	ENSP00000439084.1:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACG...
NM_001031847.2:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	NP_001027017.1:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCT...
NM_001876.3:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	NP_001867.2:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGC...
XM_005273762.1:c.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	XP_005273819.1:n.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCT...
XM_005273763.1:c.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	XP_005273820.1:n.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCT...
XM_005273762.3:c.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	XP_005273819.1:n.2239-113_2239-112insCTACAGGCGTGAGCAACCACGCCT...
XM_017017220.1:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	XP_016872709.1:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCT...
NM_001876.4:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA MANE Select	NP_001867.2:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGC...
NM_001031847.3:c.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCTGGCCAGAAAAATATTTTCTGGA	NP_001027017.1:n.2143-113_2143-112insCTACAGGCGTGAGCAACCACGCCT...