Canonical Allele Identifier: CA433532033

Gene: COL7A1

Linked Data

• dbSNP Id: rs1342353438
• MyVariant Identifiers: chr3:g.48602991del (hg19) ; chr3:g.48565558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565563del , CM000665.2:g.48565563del	GRCh38
NC_000003.11:g.48602996del , CM000665.1:g.48602996del	GRCh37
NC_000003.10:g.48578000del	NCBI36
NG_007065.1:g.34695del , LRG_286:g.34695del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8441-62del MANE Select	ENSP00000506558.1:n.8441-62del
ENST00000328333.12:c.8441-62del	ENSP00000332371.8:n.8441-62del
ENST00000487017.5:n.5080-62del
NM_000094.3:c.8441-62del , LRG_286t1:c.8441-62del	NP_000085.1:n.8441-62del
XM_011533336.1:c.8468-62del	XP_011531638.1:n.8468-62del
XM_011533337.1:c.8441-62del	XP_011531639.1:n.8441-62del
XM_011533338.1:c.8408-62del	XP_011531640.1:n.8408-62del
XR_940369.1:n.8504-62del
XR_940370.1:n.8504-62del
XR_940371.1:n.8504-62del
XM_017005688.1:c.8381-62del	XP_016861177.1:n.8381-62del
XR_001740003.1:n.8477-62del
XR_001740004.1:n.8477-62del
XR_001740005.1:n.8477-62del
NM_000094.4:c.8441-62del MANE Select	NP_000085.1:n.8441-62del