Canonical Allele Identifier: CA916888187

Gene: COL7A1

Linked Data

• dbSNP Id: rs1575420357
• gnomAD v4: 3-48568346-GCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568349_48568351del , CM000665.2:g.48568349_48568351del	GRCh38
NC_000003.11:g.48605782_48605784del , CM000665.1:g.48605782_48605784del	GRCh37
NC_000003.10:g.48580786_48580788del	NCBI36
NG_007065.1:g.31904_31906del , LRG_286:g.31904_31906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+150_7794+152del MANE Select	ENSP00000506558.1:n.7794+150_7794+152del
ENST00000328333.12:c.7794+150_7794+152del	ENSP00000332371.8:n.7794+150_7794+152del
ENST00000459756.5:n.617+150_617+152del
ENST00000467985.1:n.641-117_641-115del
ENST00000487017.5:n.4433+150_4433+152del
NM_000094.3:c.7794+150_7794+152del , LRG_286t1:c.7794+150_7794+152del	NP_000085.1:n.7794+150_7794+152del
XM_011533336.1:c.7821+150_7821+152del	XP_011531638.1:n.7821+150_7821+152del
XM_011533337.1:c.7794+150_7794+152del	XP_011531639.1:n.7794+150_7794+152del
XM_011533338.1:c.7761+150_7761+152del	XP_011531640.1:n.7761+150_7761+152del
XM_011533339.1:c.7822-117_7822-115del	XP_011531641.1:n.7822-117_7822-115del
XR_940369.1:n.7857+150_7857+152del
XR_940370.1:n.7857+150_7857+152del
XR_940371.1:n.7857+150_7857+152del
XR_940372.1:n.7831+150_7831+152del
XM_017005688.1:c.7734+150_7734+152del	XP_016861177.1:n.7734+150_7734+152del
XM_017005689.1:c.7795-117_7795-115del	XP_016861178.1:n.7795-117_7795-115del
XR_001740003.1:n.7830+150_7830+152del
XR_001740004.1:n.7830+150_7830+152del
XR_001740005.1:n.7830+150_7830+152del
XR_001740006.1:n.7804+150_7804+152del
NM_000094.4:c.7794+150_7794+152del MANE Select	NP_000085.1:n.7794+150_7794+152del