Canonical Allele Identifier: CA2629164356

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209714-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209714_68209715insTA , CM000677.2:g.68209714_68209715insTA	GRCh38
NC_000015.9:g.68502052_68502053insTA , CM000677.1:g.68502052_68502053insTA	GRCh37
NC_000015.8:g.66289106_66289107insTA	NCBI36
NG_008764.2:g.52497_52498insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.587_588insTA MANE Select	ENSP00000249806.5:p.Phe197ThrfsTer10
ENST00000562767.2:c.84-12087_84-12086insTA	ENSP00000456336.1:n.84-12087_84-12086insTA
ENST00000563917.2:n.429_430insTA
ENST00000565471.6:c.128_129insTA	ENSP00000457384.1:p.Phe44ThrfsTer10
ENST00000635747.1:c.*490_*491insTA	ENSP00000490627.1:n.*490_*491insTA
ENST00000636212.1:c.*257_*258insTA	ENSP00000489851.1:n.*257_*258insTA
ENST00000636314.1:c.283_284insTA	ENSP00000490295.1:p.Ala95ValfsTer6
ENST00000636674.1:n.1689_1690insTA
ENST00000636964.1:n.2115_2116insTA
ENST00000637054.1:c.198+8821_198+8822insTA	ENSP00000490807.1:n.198+8821_198+8822insTA
ENST00000637223.1:c.*301_*302insTA	ENSP00000490010.1:n.*301_*302insTA
ENST00000637329.1:c.556_557insTA
ENST00000637450.1:c.*241_*242insTA	ENSP00000490204.1:n.*241_*242insTA
ENST00000637494.1:c.299_300insTA	ENSP00000490057.1:p.Phe101ThrfsTer10
ENST00000637667.1:c.488_489insTA	ENSP00000489843.1:p.Phe164ThrfsTer10
ENST00000637823.1:c.412_413insTA
ENST00000637888.1:c.198+8821_198+8822insTA	ENSP00000490546.1:n.198+8821_198+8822insTA
ENST00000638076.1:c.*190_*191insTA	ENSP00000490373.1:n.*190_*191insTA
ENST00000638144.1:n.230_231insTA
ENST00000646164.1:c.38+8821_38+8822insTA
ENST00000249806.9:c.587_588insTA	ENSP00000249806.5:p.Phe197ThrfsTer10
ENST00000538696.5:c.683_684insTA	ENSP00000445770.1:p.Phe229ThrfsTer10
ENST00000562767.1:c.84-12087_84-12086insTA	ENSP00000456336.1:n.84-12087_84-12086insTA
ENST00000563917.1:n.487_488insTA
ENST00000564752.1:c.613_614insTA	ENSP00000457822.1:p.Ala205ValfsTer6
ENST00000565471.5:c.128_129insTA	ENSP00000457384.1:p.Phe44ThrfsTer10
ENST00000566347.5:c.398_399insTA	ENSP00000457783.1:p.Phe134ThrfsTer10
ENST00000567060.5:c.303_304insTA	ENSP00000454818.1:p.Leu102TyrfsTer?
NM_017882.2:c.587_588insTA	NP_060352.1:p.Phe197ThrfsTer10
XR_931861.1:n.809_810insTA
NM_017882.3:c.587_588insTA MANE Select	NP_060352.1:p.Phe197ThrfsTer10