Canonical Allele Identifier: CA1777236736

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765283_37765286delinsTTTC , CM000670.2:g.37765283_37765286delinsTTTC	GRCh38
NC_000008.10:g.37622801_37622804delinsTTTC , CM000670.1:g.37622801_37622804delinsTTTC	GRCh37
NC_000008.9:g.37741959_37741962delinsTTTC	NCBI36
NG_053030.1:g.8531_8534delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.100-243_100-240delinsTTTC MANE Select	ENSP00000333551.3:n.100-243_100-240delinsTTTC
ENST00000328195.7:c.100-243_100-240delinsTTTC	ENSP00000333551.3:n.100-243_100-240delinsTTTC
ENST00000518036.5:c.100-243_100-240delinsTTTC	ENSP00000428005.1:n.100-243_100-240delinsTTTC
ENST00000520073.5:n.165-243_165-240delinsTTTC
ENST00000523187.5:c.-57-243_-57-240delinsTTTC	ENSP00000427886.1:n.-57-243_-57-240delinsTTTC
ENST00000523358.5:c.100-243_100-240delinsTTTC	ENSP00000427778.1:n.100-243_100-240delinsTTTC
ENST00000523994.1:n.105-243_105-240delinsTTTC
NM_007198.3:c.100-243_100-240delinsTTTC	NP_009129.1:n.100-243_100-240delinsTTTC
NM_001349346.1:c.100-243_100-240delinsTTTC	NP_001336275.1:n.100-243_100-240delinsTTTC
NM_001349347.1:c.100-243_100-240delinsTTTC	NP_001336276.1:n.100-243_100-240delinsTTTC
NM_001349348.1:c.-57-243_-57-240delinsTTTC	NP_001336277.1:n.-57-243_-57-240delinsTTTC
NM_001349349.1:c.205-243_205-240delinsTTTC	NP_001336278.1:n.205-243_205-240delinsTTTC
NM_007198.4:c.100-243_100-240delinsTTTC MANE Select	NP_009129.1:n.100-243_100-240delinsTTTC
NM_001349346.2:c.100-243_100-240delinsTTTC	NP_001336275.1:n.100-243_100-240delinsTTTC
NM_001349347.2:c.100-243_100-240delinsTTTC	NP_001336276.1:n.100-243_100-240delinsTTTC
NM_001349348.2:c.-57-243_-57-240delinsTTTC	NP_001336277.1:n.-57-243_-57-240delinsTTTC