Canonical Allele Identifier: CA1495814542
Gene: PABPC4L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200432_134200435delinsGTTT , CM000666.2:g.134200432_134200435delinsGTTT GRCh38
NC_000004.11:g.135121587_135121590delinsGTTT , CM000666.1:g.135121587_135121590delinsGTTT GRCh37
NC_000004.10:g.135341037_135341040delinsGTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.585_588delinsAAAC MANE Select ENSP00000463233.1:p.Lys195=
ENST00000421491.3:c.585_588delinsAAAC ENSP00000463233.1:p.Lys195=
NM_001114734.1:c.759_762delinsAAAC NP_001108206.2:p.Lys253=
NM_001114734.2:c.585_588delinsAAAC MANE Select NP_001108206.3:p.Lys195=
NM_001363585.1:c.585_588delinsAAAC NP_001350514.1:p.Lys195=
XR_001741133.1:n.1124_1127delinsAAAC
XR_001741134.1:n.1124_1127delinsAAAC
XR_001741135.1:n.1124_1127delinsAAAC
XR_001741136.1:n.1124_1127delinsAAAC
XR_001741137.1:n.1124_1127delinsAAAC
XR_001741138.1:n.1124_1127delinsAAAC
XR_001741139.1:n.1119_1122delinsAAAC