Canonical Allele Identifier: CA939164670
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1946760325
gnomAD v3: 11-68759518-TA-T
gnomAD v4: 11-68759518-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759521del , CM000673.2:g.68759521del GRCh38
NC_000011.9:g.68526989del , CM000673.1:g.68526989del GRCh37
NC_000011.8:g.68283565del NCBI36
NG_011801.1:g.87413del

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2235+50del MANE Select ENSP00000265641.4:n.2235+50del
ENST00000265641.9:c.2235+50del ENSP00000265641.4:n.2235+50del
ENST00000376618.6:c.2235+50del ENSP00000365803.2:n.2235+50del
ENST00000539743.5:c.2235+50del ENSP00000446108.1:n.2235+50del
ENST00000540367.5:c.2235+50del ENSP00000439084.1:n.2235+50del
NM_001031847.2:c.2235+50del NP_001027017.1:n.2235+50del
NM_001876.3:c.2235+50del NP_001867.2:n.2235+50del
XM_005273762.1:c.2331+50del XP_005273819.1:n.2331+50del
XM_005273763.1:c.2331+50del XP_005273820.1:n.2331+50del
XM_005273762.3:c.2331+50del XP_005273819.1:n.2331+50del
XM_017017220.1:c.2235+50del XP_016872709.1:n.2235+50del
NM_001876.4:c.2235+50del MANE Select NP_001867.2:n.2235+50del
NM_001031847.3:c.2235+50del NP_001027017.1:n.2235+50del
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