Canonical Allele Identifier: CA2629161947

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207510-A-AAGAGTCCTCTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207510_68207511insAGAGTCCTCTGGT , CM000677.2:g.68207510_68207511insAGAGTCCTCTGGT	GRCh38
NC_000015.9:g.68499848_68499849insAGAGTCCTCTGGT , CM000677.1:g.68499848_68499849insAGAGTCCTCTGGT	GRCh37
NC_000015.8:g.66286902_66286903insAGAGTCCTCTGGT	NCBI36
NG_008764.2:g.54701_54702insACCAGAGGACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*629_*630insACCAGAGGACTCT MANE Select	ENSP00000249806.5:n.*629_*630insACCAGAGGACTCT
ENST00000562767.2:c.84-9883_84-9882insACCAGAGGACTCT	ENSP00000456336.1:n.84-9883_84-9882insACCAGAGGACTCT
ENST00000636964.1:n.3093_3094insACCAGAGGACTCT
ENST00000637054.1:c.199-9883_199-9882insACCAGAGGACTCT	ENSP00000490807.1:n.199-9883_199-9882insACCAGAGGACTCT
ENST00000637888.1:c.199-9883_199-9882insACCAGAGGACTCT	ENSP00000490546.1:n.199-9883_199-9882insACCAGAGGACTCT
ENST00000638026.1:n.170_171insACCAGAGGACTCT
ENST00000638076.1:c.*1168_*1169insACCAGAGGACTCT	ENSP00000490373.1:n.*1168_*1169insACCAGAGGACTCT
ENST00000646164.1:c.39-7830_39-7829insACCAGAGGACTCT
ENST00000249806.9:c.*629_*630insACCAGAGGACTCT	ENSP00000249806.5:n.*629_*630insACCAGAGGACTCT
ENST00000562767.1:c.84-9883_84-9882insACCAGAGGACTCT	ENSP00000456336.1:n.84-9883_84-9882insACCAGAGGACTCT
NM_017882.2:c.*629_*630insACCAGAGGACTCT	NP_060352.1:n.*629_*630insACCAGAGGACTCT
NM_017882.3:c.*629_*630insACCAGAGGACTCT MANE Select	NP_060352.1:n.*629_*630insACCAGAGGACTCT