Canonical Allele Identifier: CA2665618802

Gene: COL7A1

Linked Data

• dbSNP Id: rs2107673277
• gnomAD v4: 3-48575283-G-GGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575283_48575284insGGGC , CM000665.2:g.48575283_48575284insGGGC	GRCh38
NC_000003.11:g.48612716_48612717insGGGC , CM000665.1:g.48612716_48612717insGGGC	GRCh37
NC_000003.10:g.48587720_48587721insGGGC	NCBI36
NG_007065.1:g.24969_24970insGCCC , LRG_286:g.24969_24970insGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6181-42_6181-41insGCCC MANE Select	ENSP00000506558.1:n.6181-42_6181-41insGCCC
ENST00000328333.12:c.6181-42_6181-41insGCCC	ENSP00000332371.8:n.6181-42_6181-41insGCCC
ENST00000487017.5:n.2098-42_2098-41insGCCC
NM_000094.3:c.6181-42_6181-41insGCCC , LRG_286t1:c.6181-42_6181-41insGCCC	NP_000085.1:n.6181-42_6181-41insGCCC
XM_011533336.1:c.6208-42_6208-41insGCCC	XP_011531638.1:n.6208-42_6208-41insGCCC
XM_011533337.1:c.6181-42_6181-41insGCCC	XP_011531639.1:n.6181-42_6181-41insGCCC
XM_011533338.1:c.6208-42_6208-41insGCCC	XP_011531640.1:n.6208-42_6208-41insGCCC
XM_011533339.1:c.6208-42_6208-41insGCCC	XP_011531641.1:n.6208-42_6208-41insGCCC
XM_011533340.1:c.6208-42_6208-41insGCCC	XP_011531642.1:n.6208-42_6208-41insGCCC
XM_011533341.1:c.6208-42_6208-41insGCCC	XP_011531643.1:n.6208-42_6208-41insGCCC
XM_011533342.1:c.6208-42_6208-41insGCCC	XP_011531644.1:n.6208-42_6208-41insGCCC
XR_940369.1:n.6244-42_6244-41insGCCC
XR_940370.1:n.6244-42_6244-41insGCCC
XR_940371.1:n.6244-42_6244-41insGCCC
XR_940372.1:n.6244-42_6244-41insGCCC
XR_940373.1:n.6244-42_6244-41insGCCC
XR_940374.1:n.6244-42_6244-41insGCCC
XR_940375.1:n.6182-42_6182-41insGCCC
XM_017005688.1:c.6181-42_6181-41insGCCC	XP_016861177.1:n.6181-42_6181-41insGCCC
XM_017005689.1:c.6181-42_6181-41insGCCC	XP_016861178.1:n.6181-42_6181-41insGCCC
XM_017005690.1:c.6181-42_6181-41insGCCC	XP_016861179.1:n.6181-42_6181-41insGCCC
XM_017005691.1:c.6181-42_6181-41insGCCC	XP_016861180.1:n.6181-42_6181-41insGCCC
XM_017005692.1:c.6181-42_6181-41insGCCC	XP_016861181.1:n.6181-42_6181-41insGCCC
XR_001740003.1:n.6217-42_6217-41insGCCC
XR_001740004.1:n.6217-42_6217-41insGCCC
XR_001740005.1:n.6217-42_6217-41insGCCC
XR_001740006.1:n.6217-42_6217-41insGCCC
XR_001740007.1:n.6217-42_6217-41insGCCC
XR_001740008.1:n.6217-42_6217-41insGCCC
XR_001740009.1:n.6155-42_6155-41insGCCC
NM_000094.4:c.6181-42_6181-41insGCCC MANE Select	NP_000085.1:n.6181-42_6181-41insGCCC