Canonical Allele Identifier: CA2701834523

Gene: COL6A3

Linked Data

• dbSNP Id: rs2106369517

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237380874_237380876del , CM000664.2:g.237380874_237380876del	GRCh38
NC_000002.11:g.238289517_238289519del , CM000664.1:g.238289517_238289519del	GRCh37
NC_000002.10:g.237954256_237954258del	NCBI36
NG_008676.1:g.38333_38335del , LRG_473:g.38333_38335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.1279+40_1279+42del	ENSP00000315873.4:n.1279+40_1279+42del
ENST00000295550.9:c.1897+40_1897+42del MANE Select	ENSP00000295550.4:n.1897+40_1897+42del
ENST00000295550.8:c.1897+40_1897+42del	ENSP00000295550.4:n.1897+40_1897+42del
ENST00000347401.7:c.676+40_676+42del	ENSP00000315609.4:n.676+40_676+42del
ENST00000353578.8:c.1279+40_1279+42del	ENSP00000315873.4:n.1279+40_1279+42del
ENST00000392003.6:c.676+40_676+42del	ENSP00000375860.2:n.676+40_676+42del
ENST00000392004.7:c.1279+40_1279+42del	ENSP00000375861.3:n.1279+40_1279+42del
ENST00000409809.5:c.1279+40_1279+42del	ENSP00000386844.1:n.1279+40_1279+42del
ENST00000433762.1:c.1897+40_1897+42del	ENSP00000389539.1:n.1897+40_1897+42del
ENST00000472056.5:c.676+40_676+42del	ENSP00000418285.1:n.676+40_676+42del
NM_004369.3:c.1897+40_1897+42del , LRG_473t1:c.1897+40_1897+42del	NP_004360.2:n.1897+40_1897+42del
NM_057164.4:c.676+40_676+42del	NP_476505.3:n.676+40_676+42del
NM_057165.4:c.1279+40_1279+42del	NP_476506.3:n.1279+40_1279+42del
NM_057166.4:c.676+40_676+42del	NP_476507.3:n.676+40_676+42del
NM_057167.3:c.1279+40_1279+42del	NP_476508.2:n.1279+40_1279+42del
XM_005246065.1:c.1897+40_1897+42del	XP_005246122.1:n.1897+40_1897+42del
XM_005246066.1:c.676+40_676+42del	XP_005246123.1:n.676+40_676+42del
XM_006712253.1:c.1897+40_1897+42del	XP_006712316.1:n.1897+40_1897+42del
XM_011510574.1:c.1897+40_1897+42del	XP_011508876.1:n.1897+40_1897+42del
XM_011510575.1:c.92-3531_92-3529del	XP_011508877.1:n.92-3531_92-3529del
XM_017003304.1:c.92-3531_92-3529del	XP_016858793.1:n.92-3531_92-3529del
XM_024452684.1:c.676+40_676+42del	XP_024308452.1:n.676+40_676+42del
NM_004369.4:c.1897+40_1897+42del MANE Select	NP_004360.2:n.1897+40_1897+42del
NM_057164.5:c.676+40_676+42del	NP_476505.3:n.676+40_676+42del
NM_057165.5:c.1279+40_1279+42del	NP_476506.3:n.1279+40_1279+42del
NM_057166.5:c.676+40_676+42del	NP_476507.3:n.676+40_676+42del
NM_057167.4:c.1279+40_1279+42del	NP_476508.2:n.1279+40_1279+42del