Canonical Allele Identifier: CA662414517
Community Standard Title: NM_014241.4(HACD1):c.457_459del (p.Trp153del)
Gene: HACD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17603585_17603587del , CM000672.2:g.17603585_17603587del GRCh38
NC_000010.10:g.17645584_17645586del , CM000672.1:g.17645584_17645586del GRCh37
NC_000010.9:g.17685590_17685592del NCBI36
NG_041789.1:g.18789_18791del

Transcript Alleles

HGVS Amino-acid Change
NM_014241.4:c.457_459del MANE Select NP_055056.3:p.Trp153del
ENST00000361271.8:c.457_459del MANE Select ENSP00000355308.3:p.Trp153del
NM_014241.3:c.457_459del NP_055056.3:p.Trp153del
ENST00000361271.7:c.457_459del ENSP00000355308.3:p.Trp153del
ENST00000466335.1:c.353_355del
ENST00000471481.1:n.243_245del
ENST00000498812.5:c.82_84del ENSP00000462868.1:p.Trp28del
ENST00000632169.1:n.754_756del
XM_005252641.3:c.375+344_375+346del XP_005252698.1:n.375+344_375+346del
XM_005252641.4:c.375+344_375+346del XP_005252698.1:n.375+344_375+346del
XR_428651.2:n.508_510del
XR_428651.3:n.492_494del