Canonical Allele Identifier: CA2187473

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 429218
• ClinVar RCV Id: RCV000492818 ; RCV000813586
• dbSNP Id: rs780678900
• ExAC: 2:238245091 GGTCACCGGCTTCGTCGTA / G
• gnomAD v2: 2-238245091-GGTCACCGGCTTCGTCGTA-G
• gnomAD v3: 2-237336448-GGTCACCGGCTTCGTCGTA-G
• gnomAD v4: 2-237336448-GGTCACCGGCTTCGTCGTA-G
• MyVariant Identifiers: chr2:g.238245092_238245109del (hg19) ; chr2:g.237336449_237336466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336463_237336480del , CM000664.2:g.237336463_237336480del	GRCh38
NC_000002.11:g.238245106_238245123del , CM000664.1:g.238245106_238245123del	GRCh37
NC_000002.10:g.237909845_237909862del	NCBI36
NG_008676.1:g.82742_82759del , LRG_473:g.82742_82759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1279_1296del
ENST00000353578.9:c.8016_8033del	ENSP00000315873.4:p.Thr2673_Thr2678del
ENST00000682957.1:c.761_778del
ENST00000684508.1:n.901_918del
ENST00000295550.9:c.8634_8651del MANE Select	ENSP00000295550.4:p.Thr2879_Thr2884del
ENST00000295550.8:c.8634_8651del	ENSP00000295550.4:p.Thr2879_Thr2884del
ENST00000347401.7:c.6810_6827del	ENSP00000315609.4:p.Thr2271_Thr2276del
ENST00000353578.8:c.8016_8033del	ENSP00000315873.4:p.Thr2673_Thr2678del
ENST00000409809.5:c.8016_8033del	ENSP00000386844.1:p.Thr2673_Thr2678del
ENST00000472056.5:c.6813_6830del	ENSP00000418285.1:p.Thr2272_Thr2277del
ENST00000491769.1:n.5076_5093del
NM_004369.3:c.8634_8651del , LRG_473t1:c.8634_8651del	NP_004360.2:p.Thr2879_Thr2884del
NM_057166.4:c.6813_6830del	NP_476507.3:p.Thr2272_Thr2277del
NM_057167.3:c.8016_8033del	NP_476508.2:p.Thr2673_Thr2678del
XM_005246065.1:c.8034_8051del	XP_005246122.1:p.Thr2679_Thr2684del
XM_005246066.1:c.7413_7430del	XP_005246123.1:p.Thr2472_Thr2477del
XM_006712253.1:c.8133_8150del	XP_006712316.1:p.Thr2712_Thr2717del
XM_011510574.1:c.8631_8648del	XP_011508876.1:p.Thr2878_Thr2883del
XM_011510575.1:c.6228_6245del	XP_011508877.1:p.Thr2077_Thr2082del
XM_017003304.1:c.6228_6245del	XP_016858793.1:p.Thr2077_Thr2082del
XM_024452684.1:c.7413_7430del	XP_024308452.1:p.Thr2472_Thr2477del
NM_004369.4:c.8634_8651del MANE Select	NP_004360.2:p.Thr2879_Thr2884del
NM_057166.5:c.6813_6830del	NP_476507.3:p.Thr2272_Thr2277del
NM_057167.4:c.8016_8033del	NP_476508.2:p.Thr2673_Thr2678del