Canonical Allele Identifier: CA1337606336

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334546_237334550delinsATAAG , CM000664.2:g.237334546_237334550delinsATAAG	GRCh38
NC_000002.11:g.238243189_238243193delinsATAAG , CM000664.1:g.238243189_238243193delinsATAAG	GRCh37
NC_000002.10:g.237907928_237907932delinsATAAG	NCBI36
NG_008676.1:g.84658_84662delinsCTTAT , LRG_473:g.84658_84662delinsCTTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1002_1611-998delinsCTTAT
ENST00000353578.9:c.8611+76_8611+80delinsCTTAT	ENSP00000315873.4:n.8611+76_8611+80delins...
ENST00000682957.1:c.1356+76_1356+80delinsCTTAT
ENST00000683348.1:c.97+76_97+80delinsCTTAT	ENSP00000508058.1:n.97+76_97+80delinsCTTA...
ENST00000295550.9:c.9229+76_9229+80delinsCTTAT MANE Select	ENSP00000295550.4:n.9229+76_9229+80delins...
ENST00000295550.8:c.9229+76_9229+80delinsCTTAT	ENSP00000295550.4:n.9229+76_9229+80delins...
ENST00000347401.7:c.7405+76_7405+80delinsCTTAT	ENSP00000315609.4:n.7405+76_7405+80delins...
ENST00000353578.8:c.8611+76_8611+80delinsCTTAT	ENSP00000315873.4:n.8611+76_8611+80delins...
ENST00000409809.5:c.8611+76_8611+80delinsCTTAT	ENSP00000386844.1:n.8611+76_8611+80delins...
ENST00000472056.5:c.7408+76_7408+80delinsCTTAT	ENSP00000418285.1:n.7408+76_7408+80delins...
ENST00000491769.1:n.5671+76_5671+80delinsCTTAT
ENST00000493608.1:n.161+76_161+80delinsCTTAT
NM_004369.3:c.9229+76_9229+80delinsCTTAT , LRG_473t1:c.9229+76_9229+80delinsCTTAT	NP_004360.2:n.9229+76_9229+80delinsCTTAT
NM_057166.4:c.7408+76_7408+80delinsCTTAT	NP_476507.3:n.7408+76_7408+80delinsCTTAT
NM_057167.3:c.8611+76_8611+80delinsCTTAT	NP_476508.2:n.8611+76_8611+80delinsCTTAT
XM_005246065.1:c.8629+76_8629+80delinsCTTAT	XP_005246122.1:n.8629+76_8629+80delinsCTT...
XM_005246066.1:c.8008+76_8008+80delinsCTTAT	XP_005246123.1:n.8008+76_8008+80delinsCTT...
XM_006712253.1:c.8728+76_8728+80delinsCTTAT	XP_006712316.1:n.8728+76_8728+80delinsCTT...
XM_011510574.1:c.9226+76_9226+80delinsCTTAT	XP_011508876.1:n.9226+76_9226+80delinsCTT...
XM_011510575.1:c.6823+76_6823+80delinsCTTAT	XP_011508877.1:n.6823+76_6823+80delinsCTT...
XM_017003304.1:c.6823+76_6823+80delinsCTTAT	XP_016858793.1:n.6823+76_6823+80delinsCTT...
XM_024452684.1:c.8008+76_8008+80delinsCTTAT	XP_024308452.1:n.8008+76_8008+80delinsCTT...
NM_004369.4:c.9229+76_9229+80delinsCTTAT MANE Select	NP_004360.2:n.9229+76_9229+80delinsCTTAT
NM_057166.5:c.7408+76_7408+80delinsCTTAT	NP_476507.3:n.7408+76_7408+80delinsCTTAT
NM_057167.4:c.8611+76_8611+80delinsCTTAT	NP_476508.2:n.8611+76_8611+80delinsCTTAT