Canonical Allele Identifier: CA2663791747

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334499-T-TGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334499_237334500insGGC , CM000664.2:g.237334499_237334500insGGC	GRCh38
NC_000002.11:g.238243142_238243143insGGC , CM000664.1:g.238243142_238243143insGGC	GRCh37
NC_000002.10:g.237907881_237907882insGGC	NCBI36
NG_008676.1:g.84708_84709insGCC , LRG_473:g.84708_84709insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-952_1611-951insGCC
ENST00000353578.9:c.8611+126_8611+127insGCC	ENSP00000315873.4:n.8611+126_8611+127insGCC
ENST00000682957.1:c.1356+126_1356+127insGCC
ENST00000683348.1:c.97+126_97+127insGCC	ENSP00000508058.1:n.97+126_97+127insGCC
ENST00000295550.9:c.9229+126_9229+127insGCC MANE Select	ENSP00000295550.4:n.9229+126_9229+127insGCC
ENST00000295550.8:c.9229+126_9229+127insGCC	ENSP00000295550.4:n.9229+126_9229+127insGCC
ENST00000347401.7:c.7405+126_7405+127insGCC	ENSP00000315609.4:n.7405+126_7405+127insGCC
ENST00000353578.8:c.8611+126_8611+127insGCC	ENSP00000315873.4:n.8611+126_8611+127insGCC
ENST00000409809.5:c.8611+126_8611+127insGCC	ENSP00000386844.1:n.8611+126_8611+127insGCC
ENST00000472056.5:c.7408+126_7408+127insGCC	ENSP00000418285.1:n.7408+126_7408+127insGCC
ENST00000491769.1:n.5671+126_5671+127insGCC
ENST00000493608.1:n.161+126_161+127insGCC
NM_004369.3:c.9229+126_9229+127insGCC , LRG_473t1:c.9229+126_9229+127insGCC	NP_004360.2:n.9229+126_9229+127insGCC
NM_057166.4:c.7408+126_7408+127insGCC	NP_476507.3:n.7408+126_7408+127insGCC
NM_057167.3:c.8611+126_8611+127insGCC	NP_476508.2:n.8611+126_8611+127insGCC
XM_005246065.1:c.8629+126_8629+127insGCC	XP_005246122.1:n.8629+126_8629+127insGCC
XM_005246066.1:c.8008+126_8008+127insGCC	XP_005246123.1:n.8008+126_8008+127insGCC
XM_006712253.1:c.8728+126_8728+127insGCC	XP_006712316.1:n.8728+126_8728+127insGCC
XM_011510574.1:c.9226+126_9226+127insGCC	XP_011508876.1:n.9226+126_9226+127insGCC
XM_011510575.1:c.6823+126_6823+127insGCC	XP_011508877.1:n.6823+126_6823+127insGCC
XM_017003304.1:c.6823+126_6823+127insGCC	XP_016858793.1:n.6823+126_6823+127insGCC
XM_024452684.1:c.8008+126_8008+127insGCC	XP_024308452.1:n.8008+126_8008+127insGCC
NM_004369.4:c.9229+126_9229+127insGCC MANE Select	NP_004360.2:n.9229+126_9229+127insGCC
NM_057166.5:c.7408+126_7408+127insGCC	NP_476507.3:n.7408+126_7408+127insGCC
NM_057167.4:c.8611+126_8611+127insGCC	NP_476508.2:n.8611+126_8611+127insGCC