Canonical Allele Identifier: CA2663791743
Gene: COL6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237334502_237334507del , CM000664.2:g.237334502_237334507del GRCh38
NC_000002.11:g.238243145_238243150del , CM000664.1:g.238243145_238243150del GRCh37
NC_000002.10:g.237907884_237907889del NCBI36
NG_008676.1:g.84706_84711del , LRG_473:g.84706_84711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1611-954_1611-949del
ENST00000353578.9:c.8611+124_8611+129del ENSP00000315873.4:n.8611+124_8611+129del
ENST00000682957.1:c.1356+124_1356+129del
ENST00000683348.1:c.97+124_97+129del ENSP00000508058.1:n.97+124_97+129del
ENST00000295550.9:c.9229+124_9229+129del MANE Select ENSP00000295550.4:n.9229+124_9229+129del
ENST00000295550.8:c.9229+124_9229+129del ENSP00000295550.4:n.9229+124_9229+129del
ENST00000347401.7:c.7405+124_7405+129del ENSP00000315609.4:n.7405+124_7405+129del
ENST00000353578.8:c.8611+124_8611+129del ENSP00000315873.4:n.8611+124_8611+129del
ENST00000409809.5:c.8611+124_8611+129del ENSP00000386844.1:n.8611+124_8611+129del
ENST00000472056.5:c.7408+124_7408+129del ENSP00000418285.1:n.7408+124_7408+129del
ENST00000491769.1:n.5671+124_5671+129del
ENST00000493608.1:n.161+124_161+129del
NM_004369.3:c.9229+124_9229+129del , LRG_473t1:c.9229+124_9229+129del NP_004360.2:n.9229+124_9229+129del
NM_057166.4:c.7408+124_7408+129del NP_476507.3:n.7408+124_7408+129del
NM_057167.3:c.8611+124_8611+129del NP_476508.2:n.8611+124_8611+129del
XM_005246065.1:c.8629+124_8629+129del XP_005246122.1:n.8629+124_8629+129del
XM_005246066.1:c.8008+124_8008+129del XP_005246123.1:n.8008+124_8008+129del
XM_006712253.1:c.8728+124_8728+129del XP_006712316.1:n.8728+124_8728+129del
XM_011510574.1:c.9226+124_9226+129del XP_011508876.1:n.9226+124_9226+129del
XM_011510575.1:c.6823+124_6823+129del XP_011508877.1:n.6823+124_6823+129del
XM_017003304.1:c.6823+124_6823+129del XP_016858793.1:n.6823+124_6823+129del
XM_024452684.1:c.8008+124_8008+129del XP_024308452.1:n.8008+124_8008+129del
NM_004369.4:c.9229+124_9229+129del MANE Select NP_004360.2:n.9229+124_9229+129del
NM_057166.5:c.7408+124_7408+129del NP_476507.3:n.7408+124_7408+129del
NM_057167.4:c.8611+124_8611+129del NP_476508.2:n.8611+124_8611+129del