Canonical Allele Identifier: CA2629162758

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207982-ACACACACACACACACACGAATCCACGCACACGAGGCACACCCCACTCATGCTCTCGGTCTCTGGTTACACACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207988_68208060del , CM000677.2:g.68207988_68208060del	GRCh38
NC_000015.9:g.68500326_68500398del , CM000677.1:g.68500326_68500398del	GRCh37
NC_000015.8:g.66287380_66287452del	NCBI36
NG_008764.2:g.54157_54229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*85_*157del MANE Select	ENSP00000249806.5:n.*85_*157del
ENST00000562767.2:c.84-10427_84-10355del	ENSP00000456336.1:n.84-10427_84-10355del
ENST00000565471.6:c.*85_*157del	ENSP00000457384.1:n.*85_*157del
ENST00000636964.1:n.2549_2621del
ENST00000637054.1:c.199-10427_199-10355del	ENSP00000490807.1:n.199-10427_199-10355del
ENST00000637329.1:c.990_1062del
ENST00000637888.1:c.199-10427_199-10355del	ENSP00000490546.1:n.199-10427_199-10355del
ENST00000638076.1:c.*624_*696del	ENSP00000490373.1:n.*624_*696del
ENST00000646164.1:c.39-8374_39-8302del
ENST00000249806.9:c.*85_*157del	ENSP00000249806.5:n.*85_*157del
ENST00000562767.1:c.84-10427_84-10355del	ENSP00000456336.1:n.84-10427_84-10355del
ENST00000565471.5:c.*85_*157del	ENSP00000457384.1:n.*85_*157del
ENST00000567060.5:c.*419_*491del	ENSP00000454818.1:n.*419_*491del
NM_017882.2:c.*85_*157del	NP_060352.1:n.*85_*157del
NM_017882.3:c.*85_*157del MANE Select	NP_060352.1:n.*85_*157del