Canonical Allele Identifier: CA2580087770
Community Standard Title: NM_006493.4(CLN5):c.639_640insTT (p.Val214LeufsTer2)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000531_77000532insTT , CM000675.2:g.77000531_77000532insTT GRCh38
NC_000013.10:g.77574666_77574667insTT , CM000675.1:g.77574666_77574667insTT GRCh37
NC_000013.9:g.76472667_76472668insTT NCBI36
NG_009064.1:g.13608_13609insTT , LRG_692:g.13608_13609insTT

Transcript Alleles

HGVS Amino-acid Change
NM_006493.4:c.639_640insTT (CLN5) MANE Select NP_006484.2:p.Val214LeufsTer2
ENST00000377453.9:c.639_640insTT (CLN5) MANE Select ENSP00000366673.5:p.Val214LeufsTer2
NM_001366624.1:c.*88_*89insTT (CLN5) NP_001353553.1:n.*88_*89insTT
NM_001366624.2:c.*88_*89insTT (CLN5) NP_001353553.1:n.*88_*89insTT
NM_006493.2:c.786_787insTT , LRG_692t1:c.786_787insTT (CLN5) NP_006484.1:p.Val263LeufsTer2
NM_006493.3:c.639_640insTT (CLN5) NP_006484.2:p.Val214LeufsTer2
ENST00000377453.7:c.786_787insTT (CLN5) ENSP00000366673.3:p.Val263LeufsTer2
ENST00000477982.2:n.1778_1779insAA (FBXL3)
ENST00000485797.2:n.174-7580_174-7579insAA (FBXL3)
ENST00000616833.4:c.639_640insTT (CLN5) ENSP00000479547.1:p.Val214LeufsTer2
ENST00000616833.6:c.*81_*82insTT (CLN5) ENSP00000479547.3:n.*81_*82insTT
ENST00000635838.1:c.174+4404_174+4405insTT
ENST00000635905.1:n.566+4404_566+4405insTT (CLN5)
ENST00000635915.1:c.637_638insTT (CLN5)
ENST00000636183.2:c.639_640insTT (CLN5) ENSP00000490181.2:p.Val214LeufsTer2
ENST00000636525.2:c.565+4404_565+4405insTT (CLN5) ENSP00000490078.2:n.565+4404_565+4405insTT
ENST00000636681.1:c.*330_*331insTT (CLN5) ENSP00000489922.1:n.*330_*331insTT
ENST00000636705.1:c.475_476insTT (CLN5)
ENST00000636767.2:c.565+4404_565+4405insTT (CLN5) ENSP00000489855.2:n.565+4404_565+4405insTT
ENST00000636780.2:c.*88_*89insTT (CLN5) ENSP00000489809.2:n.*88_*89insTT
ENST00000637192.1:c.213+4404_213+4405insTT
ENST00000637278.1:n.965_966insTT (CLN5)
ENST00000637397.2:c.565+4404_565+4405insTT (CLN5) ENSP00000490422.2:n.565+4404_565+4405insTT
ENST00000638101.1:c.169+4404_169+4405insTT ENSP00000490535.1:n.169+4404_169+4405insTT
ENST00000638147.2:c.565+4404_565+4405insTT ENSP00000490953.2:n.565+4404_565+4405insTT
XM_011534917.1:c.*88_*89insTT (CLN5) XP_011533219.1:n.*88_*89insTT
XM_017020538.2:c.644-7580_644-7579insAA (FBXL3) XP_016876027.1:n.644-7580_644-7579insAA