Canonical Allele Identifier: CA2379179

Gene: COL7A1

Linked Data

• dbSNP Id: rs758925670
• ExAC: 3:48612745 A / ACTCTCCTGGCCAGCCCCCAGCCTCACCCT
• gnomAD v2: 3-48612745-A-ACTCTCCTGGCCAGCCCCCAGCCTCACCCT
• gnomAD v4: 3-48575312-A-ACTCTCCTGGCCAGCCCCCAGCCTCACCCT
• MyVariant Identifiers: chr3:g.48612745_48612746insCTCTCCTGGCCAGCCCCCAGCCTCACCCT (hg19) ; chr3:g.48575312_48575313insCTCTCCTGGCCAGCCCCCAGCCTCACCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575324_48575352dup , CM000665.2:g.48575324_48575352dup	GRCh38
NC_000003.11:g.48612757_48612785dup , CM000665.1:g.48612757_48612785dup	GRCh37
NC_000003.10:g.48587761_48587789dup	NCBI36
NG_007065.1:g.24912_24940dup , LRG_286:g.24912_24940dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.6178_6180+26dup
ENST00000328333.12:c.6178_6180+26dup
ENST00000487017.5:n.2095_2097+26dup
NM_000094.3:c.6178_6180+26dup , LRG_286t1:c.6178_6180+26dup
XM_011533336.1:c.6205_6207+26dup
XM_011533337.1:c.6178_6180+26dup
XM_011533338.1:c.6205_6207+26dup
XM_011533339.1:c.6205_6207+26dup
XM_011533340.1:c.6205_6207+26dup
XM_011533341.1:c.6205_6207+26dup
XM_011533342.1:c.6205_6207+26dup
XR_940369.1:n.6241_6243+26dup
XR_940370.1:n.6241_6243+26dup
XR_940371.1:n.6241_6243+26dup
XR_940372.1:n.6241_6243+26dup
XR_940373.1:n.6241_6243+26dup
XR_940374.1:n.6241_6243+26dup
XR_940375.1:n.6181+60_6182-71dup
XM_017005688.1:c.6178_6180+26dup
XM_017005689.1:c.6178_6180+26dup
XM_017005690.1:c.6178_6180+26dup
XM_017005691.1:c.6178_6180+26dup
XM_017005692.1:c.6178_6180+26dup
XR_001740003.1:n.6214_6216+26dup
XR_001740004.1:n.6214_6216+26dup
XR_001740005.1:n.6214_6216+26dup
XR_001740006.1:n.6214_6216+26dup
XR_001740007.1:n.6214_6216+26dup
XR_001740008.1:n.6214_6216+26dup
XR_001740009.1:n.6154+60_6155-71dup
NM_000094.4:c.6178_6180+26dup