Canonical Allele Identifier: CA2577587680

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568398-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568401del , CM000665.2:g.48568401del	GRCh38
NC_000003.11:g.48605834del , CM000665.1:g.48605834del	GRCh37
NC_000003.10:g.48580838del	NCBI36
NG_007065.1:g.31854del , LRG_286:g.31854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+100del MANE Select	ENSP00000506558.1:n.7794+100del
ENST00000328333.12:c.7794+100del	ENSP00000332371.8:n.7794+100del
ENST00000459756.5:n.617+100del
ENST00000467985.1:n.640+100del
ENST00000487017.5:n.4433+100del
NM_000094.3:c.7794+100del , LRG_286t1:c.7794+100del	NP_000085.1:n.7794+100del
XM_011533336.1:c.7821+100del	XP_011531638.1:n.7821+100del
XM_011533337.1:c.7794+100del	XP_011531639.1:n.7794+100del
XM_011533338.1:c.7761+100del	XP_011531640.1:n.7761+100del
XM_011533339.1:c.7821+100del	XP_011531641.1:n.7821+100del
XR_940369.1:n.7857+100del
XR_940370.1:n.7857+100del
XR_940371.1:n.7857+100del
XR_940372.1:n.7831+100del
XM_017005688.1:c.7734+100del	XP_016861177.1:n.7734+100del
XM_017005689.1:c.7794+100del	XP_016861178.1:n.7794+100del
XR_001740003.1:n.7830+100del
XR_001740004.1:n.7830+100del
XR_001740005.1:n.7830+100del
XR_001740006.1:n.7804+100del
NM_000094.4:c.7794+100del MANE Select	NP_000085.1:n.7794+100del