Canonical Allele Identifier: CA2665615698

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48565536-CATGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565537_48565541del , CM000665.2:g.48565537_48565541del	GRCh38
NC_000003.11:g.48602970_48602974del , CM000665.1:g.48602970_48602974del	GRCh37
NC_000003.10:g.48577974_48577978del	NCBI36
NG_007065.1:g.34712_34716del , LRG_286:g.34712_34716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8441-45_8441-41del MANE Select	ENSP00000506558.1:n.8441-45_8441-41del
ENST00000328333.12:c.8441-45_8441-41del	ENSP00000332371.8:n.8441-45_8441-41del
ENST00000487017.5:n.5080-45_5080-41del
NM_000094.3:c.8441-45_8441-41del , LRG_286t1:c.8441-45_8441-41del	NP_000085.1:n.8441-45_8441-41del
XM_011533336.1:c.8468-45_8468-41del	XP_011531638.1:n.8468-45_8468-41del
XM_011533337.1:c.8441-45_8441-41del	XP_011531639.1:n.8441-45_8441-41del
XM_011533338.1:c.8408-45_8408-41del	XP_011531640.1:n.8408-45_8408-41del
XR_940369.1:n.8504-45_8504-41del
XR_940370.1:n.8504-45_8504-41del
XR_940371.1:n.8504-45_8504-41del
XM_017005688.1:c.8381-45_8381-41del	XP_016861177.1:n.8381-45_8381-41del
XR_001740003.1:n.8477-45_8477-41del
XR_001740004.1:n.8477-45_8477-41del
XR_001740005.1:n.8477-45_8477-41del
NM_000094.4:c.8441-45_8441-41del MANE Select	NP_000085.1:n.8441-45_8441-41del