Canonical Allele Identifier: CA2822761477

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103785271_103785272insCC , CM000685.2:g.103785271_103785272insCC GRCh38
NC_000023.10:g.103040200_103040201insCC , CM000685.1:g.103040200_103040201insCC GRCh37
NC_000023.9:g.102926856_102926857insCC NCBI36
NG_008863.2:g.13761_13762insCC
NG_016452.2:g.52011_52012insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000621218.5:c.5-311_5-310insCC (PLP1) MANE Select ENSP00000484450.1:n.5-311_5-310insCC
ENST00000422393.5:c.5-311_5-310insCC (PLP1) ENSP00000413931.1:n.5-311_5-310insCC
ENST00000433491.5:c.5-311_5-310insCC (PLP1) ENSP00000393391.1:n.5-311_5-310insCC
ENST00000434483.5:c.5-311_5-310insCC (PLP1) ENSP00000403335.1:n.5-311_5-310insCC
ENST00000443502.5:c.5-311_5-310insCC (PLP1) ENSP00000391853.1:n.5-311_5-310insCC
ENST00000455268.5:c.5-311_5-310insCC (PLP1) ENSP00000409802.1:n.5-311_5-310insCC
ENST00000464776.5:n.269-311_269-310insCC (PLP1)
ENST00000465975.1:n.127-311_127-310insCC (PLP1)
ENST00000479569.5:n.156-311_156-310insCC (PLP1)
ENST00000480325.1:n.84-311_84-310insCC (PLP1)
ENST00000485931.5:n.83-311_83-310insCC (PLP1)
ENST00000494475.5:c.5-311_5-310insCC (PLP1) ENSP00000480409.1:n.5-311_5-310insCC
ENST00000495678.5:n.307-311_307-310insCC (PLP1)
ENST00000612423.4:c.5-311_5-310insCC (PLP1) ENSP00000481006.1:n.5-311_5-310insCC
ENST00000619236.1:c.5-311_5-310insCC (PLP1) ENSP00000477619.1:n.5-311_5-310insCC
ENST00000619257.4:n.235-311_235-310insCC (PLP1)
ENST00000621218.4:c.5-311_5-310insCC (PLP1) ENSP00000484450.1:n.5-311_5-310insCC
NM_000533.4:c.5-311_5-310insCC (PLP1) NP_000524.3:n.5-311_5-310insCC
NM_001128834.2:c.5-311_5-310insCC (PLP1) NP_001122306.1:n.5-311_5-310insCC
NM_001305004.1:c.5-476_5-475insCC (PLP1) NP_001291933.1:n.5-476_5-475insCC
NM_199478.2:c.5-311_5-310insCC (PLP1) NP_955772.1:n.5-311_5-310insCC
XR_244483.3:n.862+7409_862+7410insGG
NR_146558.1:n.457+7409_457+7410insGG (RAB9B)
NR_146560.1:n.743+7409_743+7410insGG (RAB9B)
NM_000533.5:c.5-311_5-310insCC (PLP1) MANE Select NP_000524.3:n.5-311_5-310insCC
NM_199478.3:c.5-311_5-310insCC (PLP1) NP_955772.1:n.5-311_5-310insCC
NM_001128834.3:c.5-311_5-310insCC (PLP1) NP_001122306.1:n.5-311_5-310insCC
NR_146558.2:n.432+7409_432+7410insGG (RAB9B)
NR_146560.2:n.718+7409_718+7410insGG (RAB9B)