Canonical Allele Identifier: CA1047674732

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043617238
• gnomAD v3: 3-48566590-G-GTGACCTC
• gnomAD v4: 3-48566590-G-GTGACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566598_48566604dup , CM000665.2:g.48566598_48566604dup	GRCh38
NC_000003.11:g.48604031_48604037dup , CM000665.1:g.48604031_48604037dup	GRCh37
NC_000003.10:g.48579035_48579041dup	NCBI36
NG_007065.1:g.33656_33662dup , LRG_286:g.33656_33662dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8305-34_8305-28dup MANE Select	ENSP00000506558.1:n.8305-34_8305-28dup
ENST00000328333.12:c.8305-34_8305-28dup	ENSP00000332371.8:n.8305-34_8305-28dup
ENST00000474432.1:n.705-34_705-28dup
ENST00000487017.5:n.4944-34_4944-28dup
NM_000094.3:c.8305-34_8305-28dup , LRG_286t1:c.8305-34_8305-28dup	NP_000085.1:n.8305-34_8305-28dup
XM_011533336.1:c.8332-34_8332-28dup	XP_011531638.1:n.8332-34_8332-28dup
XM_011533337.1:c.8305-34_8305-28dup	XP_011531639.1:n.8305-34_8305-28dup
XM_011533338.1:c.8272-34_8272-28dup	XP_011531640.1:n.8272-34_8272-28dup
XR_940369.1:n.8368-34_8368-28dup
XR_940370.1:n.8368-34_8368-28dup
XR_940371.1:n.8368-34_8368-28dup
XM_017005688.1:c.8245-34_8245-28dup	XP_016861177.1:n.8245-34_8245-28dup
XR_001740003.1:n.8341-34_8341-28dup
XR_001740004.1:n.8341-34_8341-28dup
XR_001740005.1:n.8341-34_8341-28dup
NM_000094.4:c.8305-34_8305-28dup MANE Select	NP_000085.1:n.8305-34_8305-28dup