Canonical Allele Identifier: CA2822761494

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103785477_103785478insTTTTT , CM000685.2:g.103785477_103785478insTTTTT GRCh38
NC_000023.10:g.103040406_103040407insTTTTT , CM000685.1:g.103040406_103040407insTTTTT GRCh37
NC_000023.9:g.102927062_102927063insTTTTT NCBI36
NG_008863.2:g.13967_13968insTTTTT
NG_016452.2:g.51806_51807insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000621218.5:c.5-105_5-104insTTTTT (PLP1) MANE Select ENSP00000484450.1:n.5-105_5-104insTTTTT
ENST00000422393.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000413931.1:n.5-105_5-104insTTTTT
ENST00000433491.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000393391.1:n.5-105_5-104insTTTTT
ENST00000434483.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000403335.1:n.5-105_5-104insTTTTT
ENST00000443502.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000391853.1:n.5-105_5-104insTTTTT
ENST00000455268.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000409802.1:n.5-105_5-104insTTTTT
ENST00000464776.5:n.269-105_269-104insTTTTT (PLP1)
ENST00000465975.1:n.127-105_127-104insTTTTT (PLP1)
ENST00000479569.5:n.156-105_156-104insTTTTT (PLP1)
ENST00000480325.1:n.84-105_84-104insTTTTT (PLP1)
ENST00000485931.5:n.83-105_83-104insTTTTT (PLP1)
ENST00000494475.5:c.5-105_5-104insTTTTT (PLP1) ENSP00000480409.1:n.5-105_5-104insTTTTT
ENST00000495678.5:n.307-105_307-104insTTTTT (PLP1)
ENST00000612423.4:c.5-105_5-104insTTTTT (PLP1) ENSP00000481006.1:n.5-105_5-104insTTTTT
ENST00000619236.1:c.5-105_5-104insTTTTT (PLP1) ENSP00000477619.1:n.5-105_5-104insTTTTT
ENST00000619257.4:n.235-105_235-104insTTTTT (PLP1)
ENST00000621218.4:c.5-105_5-104insTTTTT (PLP1) ENSP00000484450.1:n.5-105_5-104insTTTTT
NM_000533.4:c.5-105_5-104insTTTTT (PLP1) NP_000524.3:n.5-105_5-104insTTTTT
NM_001128834.2:c.5-105_5-104insTTTTT (PLP1) NP_001122306.1:n.5-105_5-104insTTTTT
NM_001305004.1:c.5-270_5-269insTTTTT (PLP1) NP_001291933.1:n.5-270_5-269insTTTTT
NM_199478.2:c.5-105_5-104insTTTTT (PLP1) NP_955772.1:n.5-105_5-104insTTTTT
XR_244483.3:n.862+7204_862+7205insAAAAA
NR_146558.1:n.457+7204_457+7205insAAAAA (RAB9B)
NR_146560.1:n.743+7204_743+7205insAAAAA (RAB9B)
NM_000533.5:c.5-105_5-104insTTTTT (PLP1) MANE Select NP_000524.3:n.5-105_5-104insTTTTT
NM_199478.3:c.5-105_5-104insTTTTT (PLP1) NP_955772.1:n.5-105_5-104insTTTTT
NM_001128834.3:c.5-105_5-104insTTTTT (PLP1) NP_001122306.1:n.5-105_5-104insTTTTT
NR_146558.2:n.432+7204_432+7205insAAAAA (RAB9B)
NR_146560.2:n.718+7204_718+7205insAAAAA (RAB9B)