Canonical Allele Identifier: CA1363082656

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575157_48575169delinsCCCAGCACAGCCT , CM000665.2:g.48575157_48575169delinsCCCAGCACAGCCT	GRCh38
NC_000003.11:g.48612590_48612602delinsCCCAGCACAGCCT , CM000665.1:g.48612590_48612602delinsCCCAGCACAGCCT	GRCh37
NC_000003.10:g.48587594_48587606delinsCCCAGCACAGCCT	NCBI36
NG_007065.1:g.25084_25096delinsAGGCTGTGCTGGG , LRG_286:g.25084_25096delinsAGGCTGTGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG MANE Select	ENSP00000506558.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
ENST00000328333.12:c.6216+38_6217-31delinsAGGCTGTGCTGGG	ENSP00000332371.8:n.6216+38_6217-31delinsAGGCTGTGCTGGG
ENST00000487017.5:n.2133+38_2134-31delinsAGGCTGTGCTGGG
NM_000094.3:c.6216+38_6217-31delinsAGGCTGTGCTGGG , LRG_286t1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	NP_000085.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_011533336.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531638.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XM_011533337.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_011531639.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_011533338.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531640.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XM_011533339.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531641.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XM_011533340.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531642.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XM_011533341.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531643.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XM_011533342.1:c.6243+38_6244-31delinsAGGCTGTGCTGGG	XP_011531644.1:n.6243+38_6244-31delinsAGGCTGTGCTGGG
XR_940369.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940370.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940371.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940372.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940373.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940374.1:n.6279+38_6280-31delinsAGGCTGTGCTGGG
XR_940375.1:n.6217+38_6218-31delinsAGGCTGTGCTGGG
XM_017005688.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_016861177.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_017005689.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_016861178.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_017005690.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_016861179.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_017005691.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_016861180.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XM_017005692.1:c.6216+38_6217-31delinsAGGCTGTGCTGGG	XP_016861181.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG
XR_001740003.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740004.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740005.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740006.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740007.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740008.1:n.6252+38_6253-31delinsAGGCTGTGCTGGG
XR_001740009.1:n.6190+38_6191-31delinsAGGCTGTGCTGGG
NM_000094.4:c.6216+38_6217-31delinsAGGCTGTGCTGGG MANE Select	NP_000085.1:n.6216+38_6217-31delinsAGGCTGTGCTGGG