Canonical Allele Identifier: CA1495815220
Gene: PABPC4L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200882_134200886delinsGACCT , CM000666.2:g.134200882_134200886delinsGACCT GRCh38
NC_000004.11:g.135122037_135122041delinsGACCT , CM000666.1:g.135122037_135122041delinsGACCT GRCh37
NC_000004.10:g.135341487_135341491delinsGACCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.134_138delinsAGGTC MANE Select ENSP00000463233.1:p.Gln45=
ENST00000421491.3:c.134_138delinsAGGTC ENSP00000463233.1:p.Gln45=
NM_001114734.1:c.308_312delinsAGGTC NP_001108206.2:p.Gln103=
NM_001114734.2:c.134_138delinsAGGTC MANE Select NP_001108206.3:p.Gln45=
NM_001363585.1:c.134_138delinsAGGTC NP_001350514.1:p.Gln45=
XR_001741133.1:n.673_677delinsAGGTC
XR_001741134.1:n.673_677delinsAGGTC
XR_001741135.1:n.673_677delinsAGGTC
XR_001741136.1:n.673_677delinsAGGTC
XR_001741137.1:n.673_677delinsAGGTC
XR_001741138.1:n.673_677delinsAGGTC
XR_001741139.1:n.668_672delinsAGGTC