Canonical Allele Identifier: CA542789364

Gene: COL7A1

Linked Data

• dbSNP Id: rs1425098930
• gnomAD v2: 3-48607450-CA-C
• gnomAD v3: 3-48570017-CA-C
• gnomAD v4: 3-48570017-CA-C
• MyVariant Identifiers: chr3:g.48607451del (hg19) ; chr3:g.48570018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570018del , CM000665.2:g.48570018del	GRCh38
NC_000003.11:g.48607451del , CM000665.1:g.48607451del	GRCh37
NC_000003.10:g.48582455del	NCBI36
NG_007065.1:g.30235del , LRG_286:g.30235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7486-103del MANE Select	ENSP00000506558.1:n.7486-103del
ENST00000328333.12:c.7486-103del	ENSP00000332371.8:n.7486-103del
ENST00000422991.1:c.481-103del	ENSP00000391608.1:n.481-103del
ENST00000459756.5:n.309-103del
ENST00000467985.1:n.332-103del
ENST00000487017.5:n.4125-103del
NM_000094.3:c.7486-103del , LRG_286t1:c.7486-103del	NP_000085.1:n.7486-103del
XM_011533336.1:c.7513-103del	XP_011531638.1:n.7513-103del
XM_011533337.1:c.7486-103del	XP_011531639.1:n.7486-103del
XM_011533338.1:c.7453-103del	XP_011531640.1:n.7453-103del
XM_011533339.1:c.7513-103del	XP_011531641.1:n.7513-103del
XM_011533342.1:c.*41-103del	XP_011531644.1:n.*41-103del
XR_940369.1:n.7549-103del
XR_940370.1:n.7549-103del
XR_940371.1:n.7549-103del
XR_940372.1:n.7523-103del
XM_017005688.1:c.7426-103del	XP_016861177.1:n.7426-103del
XM_017005689.1:c.7486-103del	XP_016861178.1:n.7486-103del
XM_017005692.1:c.*41-103del	XP_016861181.1:n.*41-103del
XR_001740003.1:n.7522-103del
XR_001740004.1:n.7522-103del
XR_001740005.1:n.7522-103del
XR_001740006.1:n.7496-103del
NM_000094.4:c.7486-103del MANE Select	NP_000085.1:n.7486-103del