Canonical Allele Identifier: CA581129
Community Standard Title: NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10296980_10296982del , CM000663.2:g.10296980_10296982del GRCh38
NC_000001.10:g.10357038_10357040del , CM000663.1:g.10357038_10357040del GRCh37
NC_000001.9:g.10279625_10279627del NCBI36
NG_008069.1:g.91275_91277del , LRG_252:g.91275_91277del

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.1945_1947del MANE Select NP_001352880.1:p.Ser649del
ENST00000676179.1:c.1945_1947del MANE Select ENSP00000502065.1:p.Ser649del
NM_001365951.1:c.1945_1947del NP_001352880.1:p.Ser649del
NM_001365952.1:c.1945_1947del NP_001352881.1:p.Ser649del
NM_001365953.1:c.1807_1809del NP_001352882.1:p.Ser603del
NM_015074.3:c.1807_1809del , LRG_252t1:c.1807_1809del NP_055889.2:p.Ser603del
NM_183416.3:c.1807_1809del NP_904325.2:p.Ser603del
NM_183416.4:c.1807_1809del NP_904325.2:p.Ser603del
ENST00000263934.10:c.1807_1809del ENSP00000263934.6:p.Ser603del
ENST00000377081.5:c.1945_1947del ENSP00000366284.1:p.Ser649del
ENST00000377083.5:c.1807_1809del ENSP00000366287.1:p.Ser603del
ENST00000377086.5:c.1945_1947del ENSP00000366290.1:p.Ser649del
ENST00000377093.8:c.1807_1809del ENSP00000366297.4:p.Ser603del
ENST00000377093.9:c.1807_1809del ENSP00000366297.4:p.Ser603del
ENST00000620295.2:c.1903_1905del ENSP00000478500.1:p.Ser635del
ENST00000622724.3:c.1867_1869del ENSP00000480063.1:p.Ser623del
ENST00000696500.1:c.*979_*981del ENSP00000512666.1:n.*979_*981del
ENST00000696502.1:c.1807_1809del ENSP00000512668.1:p.Ser603del
ENST00000696503.1:c.1870_1872del ENSP00000512669.1:p.Ser624del
ENST00000696504.1:c.1870_1872del ENSP00000512670.1:p.Ser624del