Canonical Allele Identifier: CA907757454

Gene: COL7A1

Linked Data

• dbSNP Id: rs1309534537
• gnomAD v3: 3-48582903-C-CA
• gnomAD v4: 3-48582903-C-CA
• MyVariant Identifiers: chr3:g.48620336_48620337insA (hg19) ; chr3:g.48582903_48582904insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48582904dup , CM000665.2:g.48582904dup	GRCh38
NC_000003.11:g.48620337dup , CM000665.1:g.48620337dup	GRCh37
NC_000003.10:g.48595341dup	NCBI36
NG_007065.1:g.17349dup , LRG_286:g.17349dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.4518+109dup MANE Select	ENSP00000506558.1:n.4518+109dup
ENST00000328333.12:c.4518+109dup	ENSP00000332371.8:n.4518+109dup
ENST00000487017.5:n.435+109dup
NM_000094.3:c.4518+109dup , LRG_286t1:c.4518+109dup	NP_000085.1:n.4518+109dup
XM_011533336.1:c.4545+109dup	XP_011531638.1:n.4545+109dup
XM_011533337.1:c.4518+109dup	XP_011531639.1:n.4518+109dup
XM_011533338.1:c.4545+109dup	XP_011531640.1:n.4545+109dup
XM_011533339.1:c.4545+109dup	XP_011531641.1:n.4545+109dup
XM_011533340.1:c.4545+109dup	XP_011531642.1:n.4545+109dup
XM_011533341.1:c.4545+109dup	XP_011531643.1:n.4545+109dup
XM_011533342.1:c.4545+109dup	XP_011531644.1:n.4545+109dup
XR_940369.1:n.4581+109dup
XR_940370.1:n.4581+109dup
XR_940371.1:n.4581+109dup
XR_940372.1:n.4581+109dup
XR_940373.1:n.4581+109dup
XR_940374.1:n.4581+109dup
XR_940375.1:n.4581+109dup
XM_017005688.1:c.4518+109dup	XP_016861177.1:n.4518+109dup
XM_017005689.1:c.4518+109dup	XP_016861178.1:n.4518+109dup
XM_017005690.1:c.4518+109dup	XP_016861179.1:n.4518+109dup
XM_017005691.1:c.4518+109dup	XP_016861180.1:n.4518+109dup
XM_017005692.1:c.4518+109dup	XP_016861181.1:n.4518+109dup
XR_001740003.1:n.4554+109dup
XR_001740004.1:n.4554+109dup
XR_001740005.1:n.4554+109dup
XR_001740006.1:n.4554+109dup
XR_001740007.1:n.4554+109dup
XR_001740008.1:n.4554+109dup
XR_001740009.1:n.4554+109dup
NM_000094.4:c.4518+109dup MANE Select	NP_000085.1:n.4518+109dup