Canonical Allele Identifier: CA916888214

Gene: COL7A1

Linked Data

• dbSNP Id: rs1560201026
• gnomAD v4: 3-48570087-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570088_48570089del , CM000665.2:g.48570088_48570089del	GRCh38
NC_000003.11:g.48607521_48607522del , CM000665.1:g.48607521_48607522del	GRCh37
NC_000003.10:g.48582525_48582526del	NCBI36
NG_007065.1:g.30164_30165del , LRG_286:g.30164_30165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7485+45_7485+46del MANE Select	ENSP00000506558.1:n.7485+45_7485+46del
ENST00000328333.12:c.7485+45_7485+46del	ENSP00000332371.8:n.7485+45_7485+46del
ENST00000422991.1:c.480+45_480+46del	ENSP00000391608.1:n.480+45_480+46del
ENST00000459756.5:n.308+45_308+46del
ENST00000467985.1:n.331+45_331+46del
ENST00000487017.5:n.4124+45_4124+46del
NM_000094.3:c.7485+45_7485+46del , LRG_286t1:c.7485+45_7485+46del	NP_000085.1:n.7485+45_7485+46del
XM_011533336.1:c.7512+45_7512+46del	XP_011531638.1:n.7512+45_7512+46del
XM_011533337.1:c.7485+45_7485+46del	XP_011531639.1:n.7485+45_7485+46del
XM_011533338.1:c.7452+45_7452+46del	XP_011531640.1:n.7452+45_7452+46del
XM_011533339.1:c.7512+45_7512+46del	XP_011531641.1:n.7512+45_7512+46del
XM_011533342.1:c.*40+45_*40+46del	XP_011531644.1:n.*40+45_*40+46del
XR_940369.1:n.7548+45_7548+46del
XR_940370.1:n.7548+45_7548+46del
XR_940371.1:n.7548+45_7548+46del
XR_940372.1:n.7522+45_7522+46del
XM_017005688.1:c.7425+45_7425+46del	XP_016861177.1:n.7425+45_7425+46del
XM_017005689.1:c.7485+45_7485+46del	XP_016861178.1:n.7485+45_7485+46del
XM_017005692.1:c.*40+45_*40+46del	XP_016861181.1:n.*40+45_*40+46del
XR_001740003.1:n.7521+45_7521+46del
XR_001740004.1:n.7521+45_7521+46del
XR_001740005.1:n.7521+45_7521+46del
XR_001740006.1:n.7495+45_7495+46del
NM_000094.4:c.7485+45_7485+46del MANE Select	NP_000085.1:n.7485+45_7485+46del