Canonical Allele Identifier: CA2187801

Gene: COL6A3

Linked Data

• dbSNP Id: rs750814392
• ExAC: 2:238253203 ACT / A
• gnomAD v2: 2-238253203-ACT-A
• gnomAD v3: 2-237344560-ACT-A
• gnomAD v4: 2-237344560-ACT-A
• MyVariant Identifiers: chr2:g.238253204_238253205del (hg19) ; chr2:g.237344561_237344562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344563_237344564del , CM000664.2:g.237344563_237344564del	GRCh38
NC_000002.11:g.238253206_238253207del , CM000664.1:g.238253206_238253207del	GRCh37
NC_000002.10:g.237917945_237917946del	NCBI36
NG_008676.1:g.74646_74647del , LRG_473:g.74646_74647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.101_102del
ENST00000353578.9:c.6838_6839del	ENSP00000315873.4:p.Leu2281GlyfsTer13
ENST00000295550.9:c.7456_7457del MANE Select	ENSP00000295550.4:p.Leu2487GlyfsTer13
ENST00000295550.8:c.7456_7457del	ENSP00000295550.4:p.Leu2487GlyfsTer13
ENST00000347401.7:c.5632_5633del	ENSP00000315609.4:p.Leu1879GlyfsTer13
ENST00000353578.8:c.6838_6839del	ENSP00000315873.4:p.Leu2281GlyfsTer13
ENST00000409809.5:c.6838_6839del	ENSP00000386844.1:p.Leu2281GlyfsTer13
ENST00000472056.5:c.5635_5636del	ENSP00000418285.1:p.Leu1880GlyfsTer13
ENST00000491769.1:n.1710_1711del
NM_004369.3:c.7456_7457del , LRG_473t1:c.7456_7457del	NP_004360.2:p.Leu2487GlyfsTer13
NM_057166.4:c.5635_5636del	NP_476507.3:p.Leu1880GlyfsTer13
NM_057167.3:c.6838_6839del	NP_476508.2:p.Leu2281GlyfsTer13
XM_005246065.1:c.6856_6857del	XP_005246122.1:p.Leu2287GlyfsTer13
XM_005246066.1:c.6235_6236del	XP_005246123.1:p.Leu2080GlyfsTer13
XM_006712253.1:c.6955_6956del	XP_006712316.1:p.Leu2320GlyfsTer13
XM_011510574.1:c.7453_7454del	XP_011508876.1:p.Leu2486GlyfsTer13
XM_011510575.1:c.5050_5051del	XP_011508877.1:p.Leu1685GlyfsTer13
XM_017003304.1:c.5050_5051del	XP_016858793.1:p.Leu1685GlyfsTer13
XM_024452684.1:c.6235_6236del	XP_024308452.1:p.Leu2080GlyfsTer13
NM_004369.4:c.7456_7457del MANE Select	NP_004360.2:p.Leu2487GlyfsTer13
NM_057166.5:c.5635_5636del	NP_476507.3:p.Leu1880GlyfsTer13
NM_057167.4:c.6838_6839del	NP_476508.2:p.Leu2281GlyfsTer13