Canonical Allele Identifier: CA2663791732

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334489-T-TTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334499_237334501dup , CM000664.2:g.237334499_237334501dup	GRCh38
NC_000002.11:g.238243142_238243144dup , CM000664.1:g.238243142_238243144dup	GRCh37
NC_000002.10:g.237907881_237907883dup	NCBI36
NG_008676.1:g.84716_84718dup , LRG_473:g.84716_84718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-944_1611-942dup
ENST00000353578.9:c.8611+134_8611+136dup	ENSP00000315873.4:n.8611+134_8611+136dup
ENST00000682957.1:c.1356+134_1356+136dup
ENST00000683348.1:c.97+134_97+136dup	ENSP00000508058.1:n.97+134_97+136dup
ENST00000295550.9:c.9229+134_9229+136dup MANE Select	ENSP00000295550.4:n.9229+134_9229+136dup
ENST00000295550.8:c.9229+134_9229+136dup	ENSP00000295550.4:n.9229+134_9229+136dup
ENST00000347401.7:c.7405+134_7405+136dup	ENSP00000315609.4:n.7405+134_7405+136dup
ENST00000353578.8:c.8611+134_8611+136dup	ENSP00000315873.4:n.8611+134_8611+136dup
ENST00000409809.5:c.8611+134_8611+136dup	ENSP00000386844.1:n.8611+134_8611+136dup
ENST00000472056.5:c.7408+134_7408+136dup	ENSP00000418285.1:n.7408+134_7408+136dup
ENST00000491769.1:n.5671+134_5671+136dup
ENST00000493608.1:n.161+134_161+136dup
NM_004369.3:c.9229+134_9229+136dup , LRG_473t1:c.9229+134_9229+136dup	NP_004360.2:n.9229+134_9229+136dup
NM_057166.4:c.7408+134_7408+136dup	NP_476507.3:n.7408+134_7408+136dup
NM_057167.3:c.8611+134_8611+136dup	NP_476508.2:n.8611+134_8611+136dup
XM_005246065.1:c.8629+134_8629+136dup	XP_005246122.1:n.8629+134_8629+136dup
XM_005246066.1:c.8008+134_8008+136dup	XP_005246123.1:n.8008+134_8008+136dup
XM_006712253.1:c.8728+134_8728+136dup	XP_006712316.1:n.8728+134_8728+136dup
XM_011510574.1:c.9226+134_9226+136dup	XP_011508876.1:n.9226+134_9226+136dup
XM_011510575.1:c.6823+134_6823+136dup	XP_011508877.1:n.6823+134_6823+136dup
XM_017003304.1:c.6823+134_6823+136dup	XP_016858793.1:n.6823+134_6823+136dup
XM_024452684.1:c.8008+134_8008+136dup	XP_024308452.1:n.8008+134_8008+136dup
NM_004369.4:c.9229+134_9229+136dup MANE Select	NP_004360.2:n.9229+134_9229+136dup
NM_057166.5:c.7408+134_7408+136dup	NP_476507.3:n.7408+134_7408+136dup
NM_057167.4:c.8611+134_8611+136dup	NP_476508.2:n.8611+134_8611+136dup