Canonical Allele Identifier: CA2629161946

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207510-A-AAGAGTCCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207510_68207511insAGAGTCCTCT , CM000677.2:g.68207510_68207511insAGAGTCCTCT	GRCh38
NC_000015.9:g.68499848_68499849insAGAGTCCTCT , CM000677.1:g.68499848_68499849insAGAGTCCTCT	GRCh37
NC_000015.8:g.66286902_66286903insAGAGTCCTCT	NCBI36
NG_008764.2:g.54701_54702insAGAGGACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*629_*630insAGAGGACTCT MANE Select	ENSP00000249806.5:n.*629_*630insAGAGGACTCT
ENST00000562767.2:c.84-9883_84-9882insAGAGGACTCT	ENSP00000456336.1:n.84-9883_84-9882insAGAGGACTCT
ENST00000636964.1:n.3093_3094insAGAGGACTCT
ENST00000637054.1:c.199-9883_199-9882insAGAGGACTCT	ENSP00000490807.1:n.199-9883_199-9882insAGAGGACTCT
ENST00000637888.1:c.199-9883_199-9882insAGAGGACTCT	ENSP00000490546.1:n.199-9883_199-9882insAGAGGACTCT
ENST00000638026.1:n.170_171insAGAGGACTCT
ENST00000638076.1:c.*1168_*1169insAGAGGACTCT	ENSP00000490373.1:n.*1168_*1169insAGAGGACTCT
ENST00000646164.1:c.39-7830_39-7829insAGAGGACTCT
ENST00000249806.9:c.*629_*630insAGAGGACTCT	ENSP00000249806.5:n.*629_*630insAGAGGACTCT
ENST00000562767.1:c.84-9883_84-9882insAGAGGACTCT	ENSP00000456336.1:n.84-9883_84-9882insAGAGGACTCT
NM_017882.2:c.*629_*630insAGAGGACTCT	NP_060352.1:n.*629_*630insAGAGGACTCT
NM_017882.3:c.*629_*630insAGAGGACTCT MANE Select	NP_060352.1:n.*629_*630insAGAGGACTCT