Canonical Allele Identifier: CA2663792160

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336355-CGCAGGGGCCGGCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336360_237336374del , CM000664.2:g.237336360_237336374del	GRCh38
NC_000002.11:g.238245003_238245017del , CM000664.1:g.238245003_238245017del	GRCh37
NC_000002.10:g.237909742_237909756del	NCBI36
NG_008676.1:g.82838_82852del , LRG_473:g.82838_82852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1375_1389del
ENST00000353578.9:c.8112_8126del	ENSP00000315873.4:p.Lys2705_Ala2709del
ENST00000682957.1:c.857_871del
ENST00000684508.1:n.997_1011del
ENST00000295550.9:c.8730_8744del MANE Select	ENSP00000295550.4:p.Lys2911_Ala2915del
ENST00000295550.8:c.8730_8744del	ENSP00000295550.4:p.Lys2911_Ala2915del
ENST00000347401.7:c.6906_6920del	ENSP00000315609.4:p.Lys2303_Ala2307del
ENST00000353578.8:c.8112_8126del	ENSP00000315873.4:p.Lys2705_Ala2709del
ENST00000409809.5:c.8112_8126del	ENSP00000386844.1:p.Lys2705_Ala2709del
ENST00000472056.5:c.6909_6923del	ENSP00000418285.1:p.Lys2304_Ala2308del
ENST00000491769.1:n.5172_5186del
NM_004369.3:c.8730_8744del , LRG_473t1:c.8730_8744del	NP_004360.2:p.Lys2911_Ala2915del
NM_057166.4:c.6909_6923del	NP_476507.3:p.Lys2304_Ala2308del
NM_057167.3:c.8112_8126del	NP_476508.2:p.Lys2705_Ala2709del
XM_005246065.1:c.8130_8144del	XP_005246122.1:p.Lys2711_Ala2715del
XM_005246066.1:c.7509_7523del	XP_005246123.1:p.Lys2504_Ala2508del
XM_006712253.1:c.8229_8243del	XP_006712316.1:p.Lys2744_Ala2748del
XM_011510574.1:c.8727_8741del	XP_011508876.1:p.Lys2910_Ala2914del
XM_011510575.1:c.6324_6338del	XP_011508877.1:p.Lys2109_Ala2113del
XM_017003304.1:c.6324_6338del	XP_016858793.1:p.Lys2109_Ala2113del
XM_024452684.1:c.7509_7523del	XP_024308452.1:p.Lys2504_Ala2508del
NM_004369.4:c.8730_8744del MANE Select	NP_004360.2:p.Lys2911_Ala2915del
NM_057166.5:c.6909_6923del	NP_476507.3:p.Lys2304_Ala2308del
NM_057167.4:c.8112_8126del	NP_476508.2:p.Lys2705_Ala2709del