Canonical Allele Identifier: CA645514318

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360106_237360107delinsAA , CM000664.2:g.237360106_237360107delinsAA	GRCh38
NC_000002.11:g.238268749_238268750delinsAA , CM000664.1:g.238268749_238268750delinsAA	GRCh37
NC_000002.10:g.237933488_237933489delinsAA	NCBI36
NG_008676.1:g.59101_59102delinsTT , LRG_473:g.59101_59102delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6263_6264delinsTT MANE Select	NP_004360.2:p.Pro2088Leu
ENST00000295550.9:c.6263_6264delinsTT MANE Select	ENSP00000295550.4:p.Pro2088Leu
NM_004369.3:c.6263_6264delinsTT , LRG_473t1:c.6263_6264delinsTT	NP_004360.2:p.Pro2088Leu
NM_057166.4:c.4442_4443delinsTT	NP_476507.3:p.Pro1481Leu
NM_057166.5:c.4442_4443delinsTT	NP_476507.3:p.Pro1481Leu
NM_057167.3:c.5645_5646delinsTT	NP_476508.2:p.Pro1882Leu
NM_057167.4:c.5645_5646delinsTT	NP_476508.2:p.Pro1882Leu
ENST00000295550.8:c.6263_6264delinsTT	ENSP00000295550.4:p.Pro2088Leu
ENST00000347401.7:c.4442_4443delinsTT	ENSP00000315609.4:p.Pro1481Leu
ENST00000353578.8:c.5645_5646delinsTT	ENSP00000315873.4:p.Pro1882Leu
ENST00000353578.9:c.5645_5646delinsTT	ENSP00000315873.4:p.Pro1882Leu
ENST00000409809.5:c.5645_5646delinsTT	ENSP00000386844.1:p.Pro1882Leu
ENST00000472056.5:c.4442_4443delinsTT	ENSP00000418285.1:p.Pro1481Leu
XM_005246065.1:c.5663_5664delinsTT	XP_005246122.1:p.Pro1888Leu
XM_005246066.1:c.5042_5043delinsTT	XP_005246123.1:p.Pro1681Leu
XM_006712253.1:c.5762_5763delinsTT	XP_006712316.1:p.Pro1921Leu
XM_011510574.1:c.6260_6261delinsTT	XP_011508876.1:p.Pro2087Leu
XM_011510575.1:c.3857_3858delinsTT	XP_011508877.1:p.Pro1286Leu
XM_017003304.1:c.3857_3858delinsTT	XP_016858793.1:p.Pro1286Leu
XM_024452684.1:c.5042_5043delinsTT	XP_024308452.1:p.Pro1681Leu