Canonical Allele Identifier: CA2577540202
Gene: CRTAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114560_33114576del , CM000665.2:g.33114560_33114576del GRCh38
NC_000003.11:g.33156052_33156068del , CM000665.1:g.33156052_33156068del GRCh37
NC_000003.10:g.33131056_33131072del NCBI36
NG_008122.1:g.5603_5619del , LRG_4:g.5603_5619del

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.471+12_471+28del MANE Select ENSP00000323696.5:n.471+12_471+28del
ENST00000320954.10:c.471+12_471+28del ENSP00000323696.5:n.471+12_471+28del
ENST00000449224.1:c.471+12_471+28del ENSP00000409997.1:n.471+12_471+28del
NM_006371.4:c.471+12_471+28del , LRG_4t1:c.471+12_471+28del NP_006362.1:n.471+12_471+28del
NM_006371.5:c.471+12_471+28del MANE Select NP_006362.1:n.471+12_471+28del
NM_001393363.1:c.471+12_471+28del NP_001380292.1:n.471+12_471+28del
NM_001393364.1:c.471+12_471+28del NP_001380293.1:n.471+12_471+28del
NM_001393365.1:c.471+12_471+28del NP_001380294.1:n.471+12_471+28del