Canonical Allele Identifier: CA1363077552

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043735057

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568748_48568765del , CM000665.2:g.48568748_48568765del	GRCh38
NC_000003.11:g.48606181_48606198del , CM000665.1:g.48606181_48606198del	GRCh37
NC_000003.10:g.48581185_48581202del	NCBI36
NG_007065.1:g.31492_31509del , LRG_286:g.31492_31509del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7758+23_7758+40del MANE Select	ENSP00000506558.1:n.7758+23_7758+40del
ENST00000328333.12:c.7758+23_7758+40del	ENSP00000332371.8:n.7758+23_7758+40del
ENST00000459756.5:n.581+23_581+40del
ENST00000467985.1:n.604+23_604+40del
ENST00000487017.5:n.4397+23_4397+40del
NM_000094.3:c.7758+23_7758+40del , LRG_286t1:c.7758+23_7758+40del	NP_000085.1:n.7758+23_7758+40del
XM_011533336.1:c.7785+23_7785+40del	XP_011531638.1:n.7785+23_7785+40del
XM_011533337.1:c.7758+23_7758+40del	XP_011531639.1:n.7758+23_7758+40del
XM_011533338.1:c.7725+23_7725+40del	XP_011531640.1:n.7725+23_7725+40del
XM_011533339.1:c.7785+23_7785+40del	XP_011531641.1:n.7785+23_7785+40del
XR_940369.1:n.7821+23_7821+40del
XR_940370.1:n.7821+23_7821+40del
XR_940371.1:n.7821+23_7821+40del
XR_940372.1:n.7795+23_7795+40del
XM_017005688.1:c.7698+23_7698+40del	XP_016861177.1:n.7698+23_7698+40del
XM_017005689.1:c.7758+23_7758+40del	XP_016861178.1:n.7758+23_7758+40del
XR_001740003.1:n.7794+23_7794+40del
XR_001740004.1:n.7794+23_7794+40del
XR_001740005.1:n.7794+23_7794+40del
XR_001740006.1:n.7768+23_7768+40del
NM_000094.4:c.7758+23_7758+40del MANE Select	NP_000085.1:n.7758+23_7758+40del