Canonical Allele Identifier: CA2614734979

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68781916-TCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781919_68781994del , CM000673.2:g.68781919_68781994del	GRCh38
NC_000011.9:g.68549387_68549462del , CM000673.1:g.68549387_68549462del	GRCh37
NC_000011.8:g.68305963_68306038del	NCBI36
NG_011801.1:g.64940_65015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1164-33_1206del
ENST00000265641.9:c.1164-33_1206del
ENST00000376618.6:c.1164-33_1206del
ENST00000539743.5:c.1164-33_1206del
ENST00000540367.5:c.1164-33_1206del
NM_001031847.2:c.1164-33_1206del
NM_001876.3:c.1164-33_1206del
XM_005273762.1:c.1260-33_1302del
XM_005273763.1:c.1260-33_1302del
XM_005273762.3:c.1260-33_1302del
XM_017017220.1:c.1164-33_1206del
NM_001876.4:c.1164-33_1206del
NM_001031847.3:c.1164-33_1206del