Canonical Allele Identifier: CA2379135

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 3065521
• ClinVar RCV Id: RCV003990598
• dbSNP Id: rs767279107
• ExAC: 3:48612521 CCCAGGGGTT / C
• gnomAD v2: 3-48612521-CCCAGGGGTT-C
• gnomAD v4: 3-48575088-CCCAGGGGTT-C
• MyVariant Identifiers: chr3:g.48612522_48612530del (hg19) ; chr3:g.48575089_48575097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575095_48575103del , CM000665.2:g.48575095_48575103del	GRCh38
NC_000003.11:g.48612528_48612536del , CM000665.1:g.48612528_48612536del	GRCh37
NC_000003.10:g.48587532_48587540del	NCBI36
NG_007065.1:g.25156_25164del , LRG_286:g.25156_25164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6246_6254del MANE Select	ENSP00000506558.1:p.Thr2083_Gly2085del
ENST00000328333.12:c.6246_6254del	ENSP00000332371.8:p.Thr2083_Gly2085del
ENST00000487017.5:n.2163_2171del
NM_000094.3:c.6246_6254del , LRG_286t1:c.6246_6254del	NP_000085.1:p.Thr2083_Gly2085del
XM_011533336.1:c.6273_6281del	XP_011531638.1:p.Thr2092_Gly2094del
XM_011533337.1:c.6246_6254del	XP_011531639.1:p.Thr2083_Gly2085del
XM_011533338.1:c.6273_6281del	XP_011531640.1:p.Thr2092_Gly2094del
XM_011533339.1:c.6273_6281del	XP_011531641.1:p.Thr2092_Gly2094del
XM_011533340.1:c.6273_6281del	XP_011531642.1:p.Thr2092_Gly2094del
XM_011533341.1:c.6273_6281del	XP_011531643.1:p.Thr2092_Gly2094del
XM_011533342.1:c.6273_6281del	XP_011531644.1:p.Thr2092_Gly2094del
XR_940369.1:n.6309_6317del
XR_940370.1:n.6309_6317del
XR_940371.1:n.6309_6317del
XR_940372.1:n.6309_6317del
XR_940373.1:n.6309_6317del
XR_940374.1:n.6309_6317del
XR_940375.1:n.6247_6255del
XM_017005688.1:c.6246_6254del	XP_016861177.1:p.Thr2083_Gly2085del
XM_017005689.1:c.6246_6254del	XP_016861178.1:p.Thr2083_Gly2085del
XM_017005690.1:c.6246_6254del	XP_016861179.1:p.Thr2083_Gly2085del
XM_017005691.1:c.6246_6254del	XP_016861180.1:p.Thr2083_Gly2085del
XM_017005692.1:c.6246_6254del	XP_016861181.1:p.Thr2083_Gly2085del
XR_001740003.1:n.6282_6290del
XR_001740004.1:n.6282_6290del
XR_001740005.1:n.6282_6290del
XR_001740006.1:n.6282_6290del
XR_001740007.1:n.6282_6290del
XR_001740008.1:n.6282_6290del
XR_001740009.1:n.6220_6228del
NM_000094.4:c.6246_6254del MANE Select	NP_000085.1:p.Thr2083_Gly2085del