Canonical Allele Identifier: CA1337607203

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336445_237336463delinsGGTGGTCACCGGCTTCGTC , CM000664.2:g.237336445_237336463delinsGGTGGTCACCGGCTTCGTC	GRCh38
NC_000002.11:g.238245088_238245106delinsGGTGGTCACCGGCTTCGTC , CM000664.1:g.238245088_238245106delinsGGTGGTCACCGGCTTCGTC	GRCh37
NC_000002.10:g.237909827_237909845delinsGGTGGTCACCGGCTTCGTC	NCBI36
NG_008676.1:g.82745_82763delinsGACGAAGCCGGTGACCACC , LRG_473:g.82745_82763delinsGACGAAGCCGGTGACCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1282_1300delinsGACGAAGCCGGTGACCACC
ENST00000353578.9:c.8019_8037delinsGACGAAGCCGGTGACCACC	ENSP00000315873.4:p.Thr2673=
ENST00000682957.1:c.764_782delinsGACGAAGCCGGTGACCACC
ENST00000684508.1:n.904_922delinsGACGAAGCCGGTGACCACC
ENST00000295550.9:c.8637_8655delinsGACGAAGCCGGTGACCACC MANE Select	ENSP00000295550.4:p.Thr2879=
ENST00000295550.8:c.8637_8655delinsGACGAAGCCGGTGACCACC	ENSP00000295550.4:p.Thr2879=
ENST00000347401.7:c.6813_6831delinsGACGAAGCCGGTGACCACC	ENSP00000315609.4:p.Thr2271=
ENST00000353578.8:c.8019_8037delinsGACGAAGCCGGTGACCACC	ENSP00000315873.4:p.Thr2673=
ENST00000409809.5:c.8019_8037delinsGACGAAGCCGGTGACCACC	ENSP00000386844.1:p.Thr2673=
ENST00000472056.5:c.6816_6834delinsGACGAAGCCGGTGACCACC	ENSP00000418285.1:p.Thr2272=
ENST00000491769.1:n.5079_5097delinsGACGAAGCCGGTGACCACC
NM_004369.3:c.8637_8655delinsGACGAAGCCGGTGACCACC , LRG_473t1:c.8637_8655delinsGACGAAGCCGGTGACCACC	NP_004360.2:p.Thr2879=
NM_057166.4:c.6816_6834delinsGACGAAGCCGGTGACCACC	NP_476507.3:p.Thr2272=
NM_057167.3:c.8019_8037delinsGACGAAGCCGGTGACCACC	NP_476508.2:p.Thr2673=
XM_005246065.1:c.8037_8055delinsGACGAAGCCGGTGACCACC	XP_005246122.1:p.Thr2679=
XM_005246066.1:c.7416_7434delinsGACGAAGCCGGTGACCACC	XP_005246123.1:p.Thr2472=
XM_006712253.1:c.8136_8154delinsGACGAAGCCGGTGACCACC	XP_006712316.1:p.Thr2712=
XM_011510574.1:c.8634_8652delinsGACGAAGCCGGTGACCACC	XP_011508876.1:p.Thr2878=
XM_011510575.1:c.6231_6249delinsGACGAAGCCGGTGACCACC	XP_011508877.1:p.Thr2077=
XM_017003304.1:c.6231_6249delinsGACGAAGCCGGTGACCACC	XP_016858793.1:p.Thr2077=
XM_024452684.1:c.7416_7434delinsGACGAAGCCGGTGACCACC	XP_024308452.1:p.Thr2472=
NM_004369.4:c.8637_8655delinsGACGAAGCCGGTGACCACC MANE Select	NP_004360.2:p.Thr2879=
NM_057166.5:c.6816_6834delinsGACGAAGCCGGTGACCACC	NP_476507.3:p.Thr2272=
NM_057167.4:c.8019_8037delinsGACGAAGCCGGTGACCACC	NP_476508.2:p.Thr2673=