Canonical Allele Identifier: CA1363076351

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567937_48567938delinsTC , CM000665.2:g.48567937_48567938delinsTC	GRCh38
NC_000003.11:g.48605370_48605371delinsTC , CM000665.1:g.48605370_48605371delinsTC	GRCh37
NC_000003.10:g.48580374_48580375delinsTC	NCBI36
NG_007065.1:g.32315_32316delinsGA , LRG_286:g.32315_32316delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7876-47_7876-46delinsGA MANE Select	ENSP00000506558.1:n.7876-47_7876-46delinsGA
ENST00000328333.12:c.7876-47_7876-46delinsGA	ENSP00000332371.8:n.7876-47_7876-46delinsGA
ENST00000459756.5:n.699-47_699-46delinsGA
ENST00000487017.5:n.4515-47_4515-46delinsGA
NM_000094.3:c.7876-47_7876-46delinsGA , LRG_286t1:c.7876-47_7876-46delinsGA	NP_000085.1:n.7876-47_7876-46delinsGA
XM_011533336.1:c.7903-47_7903-46delinsGA	XP_011531638.1:n.7903-47_7903-46delinsGA
XM_011533337.1:c.7876-47_7876-46delinsGA	XP_011531639.1:n.7876-47_7876-46delinsGA
XM_011533338.1:c.7843-47_7843-46delinsGA	XP_011531640.1:n.7843-47_7843-46delinsGA
XR_940369.1:n.7939-47_7939-46delinsGA
XR_940370.1:n.7939-47_7939-46delinsGA
XR_940371.1:n.7939-47_7939-46delinsGA
XM_017005688.1:c.7816-47_7816-46delinsGA	XP_016861177.1:n.7816-47_7816-46delinsGA
XR_001740003.1:n.7912-47_7912-46delinsGA
XR_001740004.1:n.7912-47_7912-46delinsGA
XR_001740005.1:n.7912-47_7912-46delinsGA
NM_000094.4:c.7876-47_7876-46delinsGA MANE Select	NP_000085.1:n.7876-47_7876-46delinsGA