Canonical Allele Identifier: CA907757730

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 758161
• ClinVar RCV Id: RCV000935852
• dbSNP Id: rs1473242396
• gnomAD v3: 3-48568543-AAC-A
• gnomAD v4: 3-48568543-AAC-A
• MyVariant Identifiers: chr3:g.48605977_48605978del (hg19) ; chr3:g.48568544_48568545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568547_48568548del , CM000665.2:g.48568547_48568548del	GRCh38
NC_000003.11:g.48605980_48605981del , CM000665.1:g.48605980_48605981del	GRCh37
NC_000003.10:g.48580984_48580985del	NCBI36
NG_007065.1:g.31708_31709del , LRG_286:g.31708_31709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-11_7759-10del MANE Select	ENSP00000506558.1:n.7759-11_7759-10del
ENST00000328333.12:c.7759-11_7759-10del	ENSP00000332371.8:n.7759-11_7759-10del
ENST00000459756.5:n.582-11_582-10del
ENST00000467985.1:n.605-11_605-10del
ENST00000487017.5:n.4398-11_4398-10del
NM_000094.3:c.7759-11_7759-10del , LRG_286t1:c.7759-11_7759-10del	NP_000085.1:n.7759-11_7759-10del
XM_011533336.1:c.7786-11_7786-10del	XP_011531638.1:n.7786-11_7786-10del
XM_011533337.1:c.7759-11_7759-10del	XP_011531639.1:n.7759-11_7759-10del
XM_011533338.1:c.7726-11_7726-10del	XP_011531640.1:n.7726-11_7726-10del
XM_011533339.1:c.7786-11_7786-10del	XP_011531641.1:n.7786-11_7786-10del
XR_940369.1:n.7822-11_7822-10del
XR_940370.1:n.7822-11_7822-10del
XR_940371.1:n.7822-11_7822-10del
XR_940372.1:n.7796-11_7796-10del
XM_017005688.1:c.7699-11_7699-10del	XP_016861177.1:n.7699-11_7699-10del
XM_017005689.1:c.7759-11_7759-10del	XP_016861178.1:n.7759-11_7759-10del
XR_001740003.1:n.7795-11_7795-10del
XR_001740004.1:n.7795-11_7795-10del
XR_001740005.1:n.7795-11_7795-10del
XR_001740006.1:n.7769-11_7769-10del
NM_000094.4:c.7759-11_7759-10del MANE Select	NP_000085.1:n.7759-11_7759-10del