Canonical Allele Identifier: CA1047679162

Gene: COL7A1

Linked Data

• gnomAD v3: 3-48578163-T-TA
• gnomAD v4: 3-48578163-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48578163_48578164insA , CM000665.2:g.48578163_48578164insA	GRCh38
NC_000003.11:g.48615596_48615597insA , CM000665.1:g.48615596_48615597insA	GRCh37
NC_000003.10:g.48590600_48590601insA	NCBI36
NG_007065.1:g.22089_22090insT , LRG_286:g.22089_22090insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.5532+157_5532+158insT MANE Select	ENSP00000506558.1:n.5532+157_5532+158insT...
ENST00000328333.12:c.5532+157_5532+158insT	ENSP00000332371.8:n.5532+157_5532+158insT...
ENST00000487017.5:n.1449+157_1449+158insT
NM_000094.3:c.5532+157_5532+158insT , LRG_286t1:c.5532+157_5532+158insT	NP_000085.1:n.5532+157_5532+158insT
XM_011533336.1:c.5559+157_5559+158insT	XP_011531638.1:n.5559+157_5559+158insT
XM_011533337.1:c.5532+157_5532+158insT	XP_011531639.1:n.5532+157_5532+158insT
XM_011533338.1:c.5559+157_5559+158insT	XP_011531640.1:n.5559+157_5559+158insT
XM_011533339.1:c.5559+157_5559+158insT	XP_011531641.1:n.5559+157_5559+158insT
XM_011533340.1:c.5559+157_5559+158insT	XP_011531642.1:n.5559+157_5559+158insT
XM_011533341.1:c.5559+157_5559+158insT	XP_011531643.1:n.5559+157_5559+158insT
XM_011533342.1:c.5559+157_5559+158insT	XP_011531644.1:n.5559+157_5559+158insT
XR_940369.1:n.5595+157_5595+158insT
XR_940370.1:n.5595+157_5595+158insT
XR_940371.1:n.5595+157_5595+158insT
XR_940372.1:n.5595+157_5595+158insT
XR_940373.1:n.5595+157_5595+158insT
XR_940374.1:n.5595+157_5595+158insT
XR_940375.1:n.5595+157_5595+158insT
XM_017005688.1:c.5532+157_5532+158insT	XP_016861177.1:n.5532+157_5532+158insT
XM_017005689.1:c.5532+157_5532+158insT	XP_016861178.1:n.5532+157_5532+158insT
XM_017005690.1:c.5532+157_5532+158insT	XP_016861179.1:n.5532+157_5532+158insT
XM_017005691.1:c.5532+157_5532+158insT	XP_016861180.1:n.5532+157_5532+158insT
XM_017005692.1:c.5532+157_5532+158insT	XP_016861181.1:n.5532+157_5532+158insT
XR_001740003.1:n.5568+157_5568+158insT
XR_001740004.1:n.5568+157_5568+158insT
XR_001740005.1:n.5568+157_5568+158insT
XR_001740006.1:n.5568+157_5568+158insT
XR_001740007.1:n.5568+157_5568+158insT
XR_001740008.1:n.5568+157_5568+158insT
XR_001740009.1:n.5568+157_5568+158insT
NM_000094.4:c.5532+157_5532+158insT MANE Select	NP_000085.1:n.5532+157_5532+158insT