Canonical Allele Identifier: CA1337606350

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334575_237334577delinsTGA , CM000664.2:g.237334575_237334577delinsTGA	GRCh38
NC_000002.11:g.238243218_238243220delinsTGA , CM000664.1:g.238243218_238243220delinsTGA	GRCh37
NC_000002.10:g.237907957_237907959delinsTGA	NCBI36
NG_008676.1:g.84631_84633delinsTCA , LRG_473:g.84631_84633delinsTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1029_1611-1027delinsTCA
ENST00000353578.9:c.8611+49_8611+51delinsTCA	ENSP00000315873.4:n.8611+49_8611+51delins...
ENST00000682957.1:c.1356+49_1356+51delinsTCA
ENST00000683348.1:c.97+49_97+51delinsTCA	ENSP00000508058.1:n.97+49_97+51delinsTCA
ENST00000295550.9:c.9229+49_9229+51delinsTCA MANE Select	ENSP00000295550.4:n.9229+49_9229+51delins...
ENST00000295550.8:c.9229+49_9229+51delinsTCA	ENSP00000295550.4:n.9229+49_9229+51delins...
ENST00000347401.7:c.7405+49_7405+51delinsTCA	ENSP00000315609.4:n.7405+49_7405+51delins...
ENST00000353578.8:c.8611+49_8611+51delinsTCA	ENSP00000315873.4:n.8611+49_8611+51delins...
ENST00000409809.5:c.8611+49_8611+51delinsTCA	ENSP00000386844.1:n.8611+49_8611+51delins...
ENST00000472056.5:c.7408+49_7408+51delinsTCA	ENSP00000418285.1:n.7408+49_7408+51delins...
ENST00000491769.1:n.5671+49_5671+51delinsTCA
ENST00000493608.1:n.161+49_161+51delinsTCA
NM_004369.3:c.9229+49_9229+51delinsTCA , LRG_473t1:c.9229+49_9229+51delinsTCA	NP_004360.2:n.9229+49_9229+51delinsTCA
NM_057166.4:c.7408+49_7408+51delinsTCA	NP_476507.3:n.7408+49_7408+51delinsTCA
NM_057167.3:c.8611+49_8611+51delinsTCA	NP_476508.2:n.8611+49_8611+51delinsTCA
XM_005246065.1:c.8629+49_8629+51delinsTCA	XP_005246122.1:n.8629+49_8629+51delinsTCA...
XM_005246066.1:c.8008+49_8008+51delinsTCA	XP_005246123.1:n.8008+49_8008+51delinsTCA...
XM_006712253.1:c.8728+49_8728+51delinsTCA	XP_006712316.1:n.8728+49_8728+51delinsTCA...
XM_011510574.1:c.9226+49_9226+51delinsTCA	XP_011508876.1:n.9226+49_9226+51delinsTCA...
XM_011510575.1:c.6823+49_6823+51delinsTCA	XP_011508877.1:n.6823+49_6823+51delinsTCA...
XM_017003304.1:c.6823+49_6823+51delinsTCA	XP_016858793.1:n.6823+49_6823+51delinsTCA...
XM_024452684.1:c.8008+49_8008+51delinsTCA	XP_024308452.1:n.8008+49_8008+51delinsTCA...
NM_004369.4:c.9229+49_9229+51delinsTCA MANE Select	NP_004360.2:n.9229+49_9229+51delinsTCA
NM_057166.5:c.7408+49_7408+51delinsTCA	NP_476507.3:n.7408+49_7408+51delinsTCA
NM_057167.4:c.8611+49_8611+51delinsTCA	NP_476508.2:n.8611+49_8611+51delinsTCA