Canonical Allele Identifier: CA543045468

Gene: COL7A1

Linked Data

• dbSNP Id: rs1408772637
• gnomAD v2: 3-48605376-A-AC
• MyVariant Identifiers: chr3:g.48605376_48605377insC (hg19) ; chr3:g.48567943_48567944insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567948dup , CM000665.2:g.48567948dup	GRCh38
NC_000003.11:g.48605381dup , CM000665.1:g.48605381dup	GRCh37
NC_000003.10:g.48580385dup	NCBI36
NG_007065.1:g.32309dup , LRG_286:g.32309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7876-53dup MANE Select	ENSP00000506558.1:n.7876-53dup
ENST00000328333.12:c.7876-53dup	ENSP00000332371.8:n.7876-53dup
ENST00000459756.5:n.699-53dup
ENST00000487017.5:n.4515-53dup
NM_000094.3:c.7876-53dup , LRG_286t1:c.7876-53dup	NP_000085.1:n.7876-53dup
XM_011533336.1:c.7903-53dup	XP_011531638.1:n.7903-53dup
XM_011533337.1:c.7876-53dup	XP_011531639.1:n.7876-53dup
XM_011533338.1:c.7843-53dup	XP_011531640.1:n.7843-53dup
XR_940369.1:n.7939-53dup
XR_940370.1:n.7939-53dup
XR_940371.1:n.7939-53dup
XM_017005688.1:c.7816-53dup	XP_016861177.1:n.7816-53dup
XR_001740003.1:n.7912-53dup
XR_001740004.1:n.7912-53dup
XR_001740005.1:n.7912-53dup
NM_000094.4:c.7876-53dup MANE Select	NP_000085.1:n.7876-53dup