Canonical Allele Identifier: CA766623425

Gene: COL6A3

Linked Data

• dbSNP Id: rs1167608831
• MyVariant Identifiers: chr2:g.238245089_238245106del (hg19) ; chr2:g.237336446_237336463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336448_237336465del , CM000664.2:g.237336448_237336465del	GRCh38
NC_000002.11:g.238245091_238245108del , CM000664.1:g.238245091_238245108del	GRCh37
NC_000002.10:g.237909830_237909847del	NCBI36
NG_008676.1:g.82745_82762del , LRG_473:g.82745_82762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1282_1299del
ENST00000353578.9:c.8019_8036del	ENSP00000315873.4:p.Thr2674_Thr2679del
ENST00000682957.1:c.764_781del
ENST00000684508.1:n.904_921del
ENST00000295550.9:c.8637_8654del MANE Select	ENSP00000295550.4:p.Thr2880_Thr2885del
ENST00000295550.8:c.8637_8654del	ENSP00000295550.4:p.Thr2880_Thr2885del
ENST00000347401.7:c.6813_6830del	ENSP00000315609.4:p.Thr2272_Thr2277del
ENST00000353578.8:c.8019_8036del	ENSP00000315873.4:p.Thr2674_Thr2679del
ENST00000409809.5:c.8019_8036del	ENSP00000386844.1:p.Thr2674_Thr2679del
ENST00000472056.5:c.6816_6833del	ENSP00000418285.1:p.Thr2273_Thr2278del
ENST00000491769.1:n.5079_5096del
NM_004369.3:c.8637_8654del , LRG_473t1:c.8637_8654del	NP_004360.2:p.Thr2880_Thr2885del
NM_057166.4:c.6816_6833del	NP_476507.3:p.Thr2273_Thr2278del
NM_057167.3:c.8019_8036del	NP_476508.2:p.Thr2674_Thr2679del
XM_005246065.1:c.8037_8054del	XP_005246122.1:p.Thr2680_Thr2685del
XM_005246066.1:c.7416_7433del	XP_005246123.1:p.Thr2473_Thr2478del
XM_006712253.1:c.8136_8153del	XP_006712316.1:p.Thr2713_Thr2718del
XM_011510574.1:c.8634_8651del	XP_011508876.1:p.Thr2879_Thr2884del
XM_011510575.1:c.6231_6248del	XP_011508877.1:p.Thr2078_Thr2083del
XM_017003304.1:c.6231_6248del	XP_016858793.1:p.Thr2078_Thr2083del
XM_024452684.1:c.7416_7433del	XP_024308452.1:p.Thr2473_Thr2478del
NM_004369.4:c.8637_8654del MANE Select	NP_004360.2:p.Thr2880_Thr2885del
NM_057166.5:c.6816_6833del	NP_476507.3:p.Thr2273_Thr2278del
NM_057167.4:c.8019_8036del	NP_476508.2:p.Thr2674_Thr2679del