Canonical Allele Identifier: CA2187470

Gene: COL6A3

Linked Data

• dbSNP Id: rs772446634
• ExAC: 2:238245076 A / AGGCTTTGTTGTGGTGGTCACC
• gnomAD v2: 2-238245076-A-AGGCTTTGTTGTGGTGGTCACC
• MyVariant Identifiers: chr2:g.238245076_238245077insGGCTTTGTTGTGGTGGTCACC (hg19) ; chr2:g.237336433_237336434insGGCTTTGTTGTGGTGGTCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336439_237336459dup , CM000664.2:g.237336439_237336459dup	GRCh38
NC_000002.11:g.238245082_238245102dup , CM000664.1:g.238245082_238245102dup	GRCh37
NC_000002.10:g.237909821_237909841dup	NCBI36
NG_008676.1:g.82754_82774dup , LRG_473:g.82754_82774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1291_1311dup
ENST00000353578.9:c.8028_8048dup	ENSP00000315873.4:p.Pro2683_Val2684insValThrThrThrThrLysPro
ENST00000682957.1:c.773_793dup
ENST00000684508.1:n.913_933dup
ENST00000295550.9:c.8646_8666dup MANE Select	ENSP00000295550.4:p.Pro2889_Val2890insValThrThrThrThrLysPro
ENST00000295550.8:c.8646_8666dup	ENSP00000295550.4:p.Pro2889_Val2890insValThrThrThrThrLysPro
ENST00000347401.7:c.6822_6842dup	ENSP00000315609.4:p.Pro2281_Val2282insValThrThrThrThrLysPro
ENST00000353578.8:c.8028_8048dup	ENSP00000315873.4:p.Pro2683_Val2684insValThrThrThrThrLysPro
ENST00000409809.5:c.8028_8048dup	ENSP00000386844.1:p.Pro2683_Val2684insValThrThrThrThrLysPro
ENST00000472056.5:c.6825_6845dup	ENSP00000418285.1:p.Pro2282_Val2283insValThrThrThrThrLysPro
ENST00000491769.1:n.5088_5108dup
NM_004369.3:c.8646_8666dup , LRG_473t1:c.8646_8666dup	NP_004360.2:p.Pro2889_Val2890insValThrThrThrThrLysPro
NM_057166.4:c.6825_6845dup	NP_476507.3:p.Pro2282_Val2283insValThrThrThrThrLysPro
NM_057167.3:c.8028_8048dup	NP_476508.2:p.Pro2683_Val2684insValThrThrThrThrLysPro
XM_005246065.1:c.8046_8066dup	XP_005246122.1:p.Pro2689_Val2690insValThrThrThrThrLysPro
XM_005246066.1:c.7425_7445dup	XP_005246123.1:p.Pro2482_Val2483insValThrThrThrThrLysPro
XM_006712253.1:c.8145_8165dup	XP_006712316.1:p.Pro2722_Val2723insValThrThrThrThrLysPro
XM_011510574.1:c.8643_8663dup	XP_011508876.1:p.Pro2888_Val2889insValThrThrThrThrLysPro
XM_011510575.1:c.6240_6260dup	XP_011508877.1:p.Pro2087_Val2088insValThrThrThrThrLysPro
XM_017003304.1:c.6240_6260dup	XP_016858793.1:p.Pro2087_Val2088insValThrThrThrThrLysPro
XM_024452684.1:c.7425_7445dup	XP_024308452.1:p.Pro2482_Val2483insValThrThrThrThrLysPro
NM_004369.4:c.8646_8666dup MANE Select	NP_004360.2:p.Pro2889_Val2890insValThrThrThrThrLysPro
NM_057166.5:c.6825_6845dup	NP_476507.3:p.Pro2282_Val2283insValThrThrThrThrLysPro
NM_057167.4:c.8028_8048dup	NP_476508.2:p.Pro2683_Val2684insValThrThrThrThrLysPro