Canonical Allele Identifier: CA2597045171

Gene: COL7A1

Linked Data

• gnomAD v3: 3-48575292-C-CA
• gnomAD v4: 3-48575292-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575292_48575293insA , CM000665.2:g.48575292_48575293insA	GRCh38
NC_000003.11:g.48612725_48612726insA , CM000665.1:g.48612725_48612726insA	GRCh37
NC_000003.10:g.48587729_48587730insA	NCBI36
NG_007065.1:g.24960_24961insT , LRG_286:g.24960_24961insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6180+46_6180+47insT MANE Select	ENSP00000506558.1:n.6180+46_6180+47insT
ENST00000328333.12:c.6180+46_6180+47insT	ENSP00000332371.8:n.6180+46_6180+47insT
ENST00000487017.5:n.2097+46_2097+47insT
NM_000094.3:c.6180+46_6180+47insT , LRG_286t1:c.6180+46_6180+47insT	NP_000085.1:n.6180+46_6180+47insT
XM_011533336.1:c.6207+46_6207+47insT	XP_011531638.1:n.6207+46_6207+47insT
XM_011533337.1:c.6180+46_6180+47insT	XP_011531639.1:n.6180+46_6180+47insT
XM_011533338.1:c.6207+46_6207+47insT	XP_011531640.1:n.6207+46_6207+47insT
XM_011533339.1:c.6207+46_6207+47insT	XP_011531641.1:n.6207+46_6207+47insT
XM_011533340.1:c.6207+46_6207+47insT	XP_011531642.1:n.6207+46_6207+47insT
XM_011533341.1:c.6207+46_6207+47insT	XP_011531643.1:n.6207+46_6207+47insT
XM_011533342.1:c.6207+46_6207+47insT	XP_011531644.1:n.6207+46_6207+47insT
XR_940369.1:n.6243+46_6243+47insT
XR_940370.1:n.6243+46_6243+47insT
XR_940371.1:n.6243+46_6243+47insT
XR_940372.1:n.6243+46_6243+47insT
XR_940373.1:n.6243+46_6243+47insT
XR_940374.1:n.6243+46_6243+47insT
XR_940375.1:n.6182-51_6182-50insT
XM_017005688.1:c.6180+46_6180+47insT	XP_016861177.1:n.6180+46_6180+47insT
XM_017005689.1:c.6180+46_6180+47insT	XP_016861178.1:n.6180+46_6180+47insT
XM_017005690.1:c.6180+46_6180+47insT	XP_016861179.1:n.6180+46_6180+47insT
XM_017005691.1:c.6180+46_6180+47insT	XP_016861180.1:n.6180+46_6180+47insT
XM_017005692.1:c.6180+46_6180+47insT	XP_016861181.1:n.6180+46_6180+47insT
XR_001740003.1:n.6216+46_6216+47insT
XR_001740004.1:n.6216+46_6216+47insT
XR_001740005.1:n.6216+46_6216+47insT
XR_001740006.1:n.6216+46_6216+47insT
XR_001740007.1:n.6216+46_6216+47insT
XR_001740008.1:n.6216+46_6216+47insT
XR_001740009.1:n.6155-51_6155-50insT
NM_000094.4:c.6180+46_6180+47insT MANE Select	NP_000085.1:n.6180+46_6180+47insT