Canonical Allele Identifier: CA2499216832

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1123492
• ClinVar RCV Id: RCV001454513
• dbSNP Id: rs2107639595

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568773_48568774delinsAT , CM000665.2:g.48568773_48568774delinsAT	GRCh38
NC_000003.11:g.48606206_48606207delinsAT , CM000665.1:g.48606206_48606207delinsAT	GRCh37
NC_000003.10:g.48581210_48581211delinsAT	NCBI36
NG_007065.1:g.31479_31480delinsAT , LRG_286:g.31479_31480delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+10_7758+11delinsAT MANE Select	ENSP00000506558.1:n.7758+10_7758+11delinsAT
ENST00000328333.12:c.7758+10_7758+11delinsAT	ENSP00000332371.8:n.7758+10_7758+11delinsAT
ENST00000459756.5:n.581+10_581+11delinsAT
ENST00000467985.1:n.604+10_604+11delinsAT
ENST00000487017.5:n.4397+10_4397+11delinsAT
NM_000094.3:c.7758+10_7758+11delinsAT , LRG_286t1:c.7758+10_7758+11delinsAT	NP_000085.1:n.7758+10_7758+11delinsAT
XM_011533336.1:c.7785+10_7785+11delinsAT	XP_011531638.1:n.7785+10_7785+11delinsAT
XM_011533337.1:c.7758+10_7758+11delinsAT	XP_011531639.1:n.7758+10_7758+11delinsAT
XM_011533338.1:c.7725+10_7725+11delinsAT	XP_011531640.1:n.7725+10_7725+11delinsAT
XM_011533339.1:c.7785+10_7785+11delinsAT	XP_011531641.1:n.7785+10_7785+11delinsAT
XR_940369.1:n.7821+10_7821+11delinsAT
XR_940370.1:n.7821+10_7821+11delinsAT
XR_940371.1:n.7821+10_7821+11delinsAT
XR_940372.1:n.7795+10_7795+11delinsAT
XM_017005688.1:c.7698+10_7698+11delinsAT	XP_016861177.1:n.7698+10_7698+11delinsAT
XM_017005689.1:c.7758+10_7758+11delinsAT	XP_016861178.1:n.7758+10_7758+11delinsAT
XR_001740003.1:n.7794+10_7794+11delinsAT
XR_001740004.1:n.7794+10_7794+11delinsAT
XR_001740005.1:n.7794+10_7794+11delinsAT
XR_001740006.1:n.7768+10_7768+11delinsAT
NM_000094.4:c.7758+10_7758+11delinsAT MANE Select	NP_000085.1:n.7758+10_7758+11delinsAT