Canonical Allele Identifier: CA2665615612

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48565458-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565460_48565462del , CM000665.2:g.48565460_48565462del	GRCh38
NC_000003.11:g.48602893_48602895del , CM000665.1:g.48602893_48602895del	GRCh37
NC_000003.10:g.48577897_48577899del	NCBI36
NG_007065.1:g.34792_34794del , LRG_286:g.34792_34794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8476_8478del MANE Select	ENSP00000506558.1:p.Ser2826del
ENST00000328333.12:c.8476_8478del	ENSP00000332371.8:p.Ser2826del
ENST00000487017.5:n.5115_5117del
NM_000094.3:c.8476_8478del , LRG_286t1:c.8476_8478del	NP_000085.1:p.Ser2826del
XM_011533336.1:c.8503_8505del	XP_011531638.1:p.Ser2835del
XM_011533337.1:c.8476_8478del	XP_011531639.1:p.Ser2826del
XM_011533338.1:c.8443_8445del	XP_011531640.1:p.Ser2815del
XR_940369.1:n.8539_8541del
XR_940370.1:n.8539_8541del
XR_940371.1:n.8539_8541del
XM_017005688.1:c.8416_8418del	XP_016861177.1:p.Ser2806del
XR_001740003.1:n.8512_8514del
XR_001740004.1:n.8512_8514del
XR_001740005.1:n.8512_8514del
NM_000094.4:c.8476_8478del MANE Select	NP_000085.1:p.Ser2826del