Canonical Allele Identifier: CA1047678512

Gene: COL7A1

Linked Data

• dbSNP Id: rs2044214137
• gnomAD v3: 3-48575284-T-TG
• gnomAD v4: 3-48575284-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575284_48575285insG , CM000665.2:g.48575284_48575285insG	GRCh38
NC_000003.11:g.48612717_48612718insG , CM000665.1:g.48612717_48612718insG	GRCh37
NC_000003.10:g.48587721_48587722insG	NCBI36
NG_007065.1:g.24968_24969insC , LRG_286:g.24968_24969insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6181-43_6181-42insC MANE Select	ENSP00000506558.1:n.6181-43_6181-42insC
ENST00000328333.12:c.6181-43_6181-42insC	ENSP00000332371.8:n.6181-43_6181-42insC
ENST00000487017.5:n.2098-43_2098-42insC
NM_000094.3:c.6181-43_6181-42insC , LRG_286t1:c.6181-43_6181-42insC	NP_000085.1:n.6181-43_6181-42insC
XM_011533336.1:c.6208-43_6208-42insC	XP_011531638.1:n.6208-43_6208-42insC
XM_011533337.1:c.6181-43_6181-42insC	XP_011531639.1:n.6181-43_6181-42insC
XM_011533338.1:c.6208-43_6208-42insC	XP_011531640.1:n.6208-43_6208-42insC
XM_011533339.1:c.6208-43_6208-42insC	XP_011531641.1:n.6208-43_6208-42insC
XM_011533340.1:c.6208-43_6208-42insC	XP_011531642.1:n.6208-43_6208-42insC
XM_011533341.1:c.6208-43_6208-42insC	XP_011531643.1:n.6208-43_6208-42insC
XM_011533342.1:c.6208-43_6208-42insC	XP_011531644.1:n.6208-43_6208-42insC
XR_940369.1:n.6244-43_6244-42insC
XR_940370.1:n.6244-43_6244-42insC
XR_940371.1:n.6244-43_6244-42insC
XR_940372.1:n.6244-43_6244-42insC
XR_940373.1:n.6244-43_6244-42insC
XR_940374.1:n.6244-43_6244-42insC
XR_940375.1:n.6182-43_6182-42insC
XM_017005688.1:c.6181-43_6181-42insC	XP_016861177.1:n.6181-43_6181-42insC
XM_017005689.1:c.6181-43_6181-42insC	XP_016861178.1:n.6181-43_6181-42insC
XM_017005690.1:c.6181-43_6181-42insC	XP_016861179.1:n.6181-43_6181-42insC
XM_017005691.1:c.6181-43_6181-42insC	XP_016861180.1:n.6181-43_6181-42insC
XM_017005692.1:c.6181-43_6181-42insC	XP_016861181.1:n.6181-43_6181-42insC
XR_001740003.1:n.6217-43_6217-42insC
XR_001740004.1:n.6217-43_6217-42insC
XR_001740005.1:n.6217-43_6217-42insC
XR_001740006.1:n.6217-43_6217-42insC
XR_001740007.1:n.6217-43_6217-42insC
XR_001740008.1:n.6217-43_6217-42insC
XR_001740009.1:n.6155-43_6155-42insC
NM_000094.4:c.6181-43_6181-42insC MANE Select	NP_000085.1:n.6181-43_6181-42insC