Canonical Allele Identifier: CA542788404

Gene: COL7A1

Linked Data

• dbSNP Id: rs1294617741
• gnomAD v2: 3-48606176-T-TCTGGAC
• gnomAD v3: 3-48568743-T-TCTGGAC
• gnomAD v4: 3-48568743-T-TCTGGAC
• MyVariant Identifiers: chr3:g.48606176_48606177insCTGGAC (hg19) ; chr3:g.48568743_48568744insCTGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568748_48568753dup , CM000665.2:g.48568748_48568753dup	GRCh38
NC_000003.11:g.48606181_48606186dup , CM000665.1:g.48606181_48606186dup	GRCh37
NC_000003.10:g.48581185_48581190dup	NCBI36
NG_007065.1:g.31504_31509dup , LRG_286:g.31504_31509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+35_7758+40dup MANE Select	ENSP00000506558.1:n.7758+35_7758+40dup
ENST00000328333.12:c.7758+35_7758+40dup	ENSP00000332371.8:n.7758+35_7758+40dup
ENST00000459756.5:n.581+35_581+40dup
ENST00000467985.1:n.604+35_604+40dup
ENST00000487017.5:n.4397+35_4397+40dup
NM_000094.3:c.7758+35_7758+40dup , LRG_286t1:c.7758+35_7758+40dup	NP_000085.1:n.7758+35_7758+40dup
XM_011533336.1:c.7785+35_7785+40dup	XP_011531638.1:n.7785+35_7785+40dup
XM_011533337.1:c.7758+35_7758+40dup	XP_011531639.1:n.7758+35_7758+40dup
XM_011533338.1:c.7725+35_7725+40dup	XP_011531640.1:n.7725+35_7725+40dup
XM_011533339.1:c.7785+35_7785+40dup	XP_011531641.1:n.7785+35_7785+40dup
XR_940369.1:n.7821+35_7821+40dup
XR_940370.1:n.7821+35_7821+40dup
XR_940371.1:n.7821+35_7821+40dup
XR_940372.1:n.7795+35_7795+40dup
XM_017005688.1:c.7698+35_7698+40dup	XP_016861177.1:n.7698+35_7698+40dup
XM_017005689.1:c.7758+35_7758+40dup	XP_016861178.1:n.7758+35_7758+40dup
XR_001740003.1:n.7794+35_7794+40dup
XR_001740004.1:n.7794+35_7794+40dup
XR_001740005.1:n.7794+35_7794+40dup
XR_001740006.1:n.7768+35_7768+40dup
NM_000094.4:c.7758+35_7758+40dup MANE Select	NP_000085.1:n.7758+35_7758+40dup