Canonical Allele Identifier: CA2663791768

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334510-G-GTTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334512_237334513insGTTTTT , CM000664.2:g.237334512_237334513insGTTTTT	GRCh38
NC_000002.11:g.238243155_238243156insGTTTTT , CM000664.1:g.238243155_238243156insGTTTTT	GRCh37
NC_000002.10:g.237907894_237907895insGTTTTT	NCBI36
NG_008676.1:g.84697_84698insAAACAA , LRG_473:g.84697_84698insAAACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-963_1611-962insAAACAA
ENST00000353578.9:c.8611+115_8611+116insAAACAA	ENSP00000315873.4:n.8611+115_8611+116insAAACAA
ENST00000682957.1:c.1356+115_1356+116insAAACAA
ENST00000683348.1:c.97+115_97+116insAAACAA	ENSP00000508058.1:n.97+115_97+116insAAACAA
ENST00000295550.9:c.9229+115_9229+116insAAACAA MANE Select	ENSP00000295550.4:n.9229+115_9229+116insAAACAA
ENST00000295550.8:c.9229+115_9229+116insAAACAA	ENSP00000295550.4:n.9229+115_9229+116insAAACAA
ENST00000347401.7:c.7405+115_7405+116insAAACAA	ENSP00000315609.4:n.7405+115_7405+116insAAACAA
ENST00000353578.8:c.8611+115_8611+116insAAACAA	ENSP00000315873.4:n.8611+115_8611+116insAAACAA
ENST00000409809.5:c.8611+115_8611+116insAAACAA	ENSP00000386844.1:n.8611+115_8611+116insAAACAA
ENST00000472056.5:c.7408+115_7408+116insAAACAA	ENSP00000418285.1:n.7408+115_7408+116insAAACAA
ENST00000491769.1:n.5671+115_5671+116insAAACAA
ENST00000493608.1:n.161+115_161+116insAAACAA
NM_004369.3:c.9229+115_9229+116insAAACAA , LRG_473t1:c.9229+115_9229+116insAAACAA	NP_004360.2:n.9229+115_9229+116insAAACAA
NM_057166.4:c.7408+115_7408+116insAAACAA	NP_476507.3:n.7408+115_7408+116insAAACAA
NM_057167.3:c.8611+115_8611+116insAAACAA	NP_476508.2:n.8611+115_8611+116insAAACAA
XM_005246065.1:c.8629+115_8629+116insAAACAA	XP_005246122.1:n.8629+115_8629+116insAAACAA
XM_005246066.1:c.8008+115_8008+116insAAACAA	XP_005246123.1:n.8008+115_8008+116insAAACAA
XM_006712253.1:c.8728+115_8728+116insAAACAA	XP_006712316.1:n.8728+115_8728+116insAAACAA
XM_011510574.1:c.9226+115_9226+116insAAACAA	XP_011508876.1:n.9226+115_9226+116insAAACAA
XM_011510575.1:c.6823+115_6823+116insAAACAA	XP_011508877.1:n.6823+115_6823+116insAAACAA
XM_017003304.1:c.6823+115_6823+116insAAACAA	XP_016858793.1:n.6823+115_6823+116insAAACAA
XM_024452684.1:c.8008+115_8008+116insAAACAA	XP_024308452.1:n.8008+115_8008+116insAAACAA
NM_004369.4:c.9229+115_9229+116insAAACAA MANE Select	NP_004360.2:n.9229+115_9229+116insAAACAA
NM_057166.5:c.7408+115_7408+116insAAACAA	NP_476507.3:n.7408+115_7408+116insAAACAA
NM_057167.4:c.8611+115_8611+116insAAACAA	NP_476508.2:n.8611+115_8611+116insAAACAA