Canonical Allele Identifier: CA148080

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 95012
• ClinVar RCV Id: RCV000081017 ; RCV000264490 ; RCV000710916 ; RCV001517165
• dbSNP Id: rs35879189
• ExAC: 2:238244863 TGCA / T
• gnomAD v2: 2-238244863-TGCA-T
• gnomAD v3: 2-237336220-TGCA-T
• gnomAD v4: 2-237336220-TGCA-T
• COSMIC: COSM1683904 ; COSM5713073
• MyVariant Identifiers: chr2:g.238244864_238244866del (hg19) ; chr2:g.238244864_238244866delGCA (hg19) ; chr2:g.237336222_237336224del (hg38) ; chr2:g.237336221_237336223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336232_237336234del , CM000664.2:g.237336232_237336234del	GRCh38
NC_000002.11:g.238244875_238244877del , CM000664.1:g.238244875_238244877del	GRCh37
NC_000002.10:g.237909614_237909616del	NCBI36
NG_008676.1:g.82985_82987del , LRG_473:g.82985_82987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1522_1524del
ENST00000353578.9:c.8259_8261del	ENSP00000315873.4:p.Ala2754del
ENST00000682957.1:c.1004_1006del
ENST00000684508.1:n.1144_1146del
ENST00000295550.9:c.8877_8879del MANE Select	ENSP00000295550.4:p.Ala2960del
ENST00000295550.8:c.8877_8879del	ENSP00000295550.4:p.Ala2960del
ENST00000347401.7:c.7053_7055del	ENSP00000315609.4:p.Ala2352del
ENST00000353578.8:c.8259_8261del	ENSP00000315873.4:p.Ala2754del
ENST00000409809.5:c.8259_8261del	ENSP00000386844.1:p.Ala2754del
ENST00000472056.5:c.7056_7058del	ENSP00000418285.1:p.Ala2353del
ENST00000491769.1:n.5319_5321del
NM_004369.3:c.8877_8879del , LRG_473t1:c.8877_8879del	NP_004360.2:p.Ala2960del
NM_057166.4:c.7056_7058del	NP_476507.3:p.Ala2353del
NM_057167.3:c.8259_8261del	NP_476508.2:p.Ala2754del
XM_005246065.1:c.8277_8279del	XP_005246122.1:p.Ala2760del
XM_005246066.1:c.7656_7658del	XP_005246123.1:p.Ala2553del
XM_006712253.1:c.8376_8378del	XP_006712316.1:p.Ala2793del
XM_011510574.1:c.8874_8876del	XP_011508876.1:p.Ala2959del
XM_011510575.1:c.6471_6473del	XP_011508877.1:p.Ala2158del
XM_017003304.1:c.6471_6473del	XP_016858793.1:p.Ala2158del
XM_024452684.1:c.7656_7658del	XP_024308452.1:p.Ala2553del
NM_004369.4:c.8877_8879del MANE Select	NP_004360.2:p.Ala2960del
NM_057166.5:c.7056_7058del	NP_476507.3:p.Ala2353del
NM_057167.4:c.8259_8261del	NP_476508.2:p.Ala2754del