Canonical Allele Identifier: CA1363075912

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567700_48567702delinsCCA , CM000665.2:g.48567700_48567702delinsCCA	GRCh38
NC_000003.11:g.48605133_48605135delinsCCA , CM000665.1:g.48605133_48605135delinsCCA	GRCh37
NC_000003.10:g.48580137_48580139delinsCCA	NCBI36
NG_007065.1:g.32551_32553delinsTGG , LRG_286:g.32551_32553delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7983+8_7983+10delinsTGG MANE Select	ENSP00000506558.1:n.7983+8_7983+10delinsTGG
ENST00000328333.12:c.7983+8_7983+10delinsTGG	ENSP00000332371.8:n.7983+8_7983+10delinsTGG
ENST00000459756.5:n.814_816delinsTGG
ENST00000487017.5:n.4622+8_4622+10delinsTGG
NM_000094.3:c.7983+8_7983+10delinsTGG , LRG_286t1:c.7983+8_7983+10delinsTGG	NP_000085.1:n.7983+8_7983+10delinsTGG
XM_011533336.1:c.8010+8_8010+10delinsTGG	XP_011531638.1:n.8010+8_8010+10delinsTGG
XM_011533337.1:c.7983+8_7983+10delinsTGG	XP_011531639.1:n.7983+8_7983+10delinsTGG
XM_011533338.1:c.7950+8_7950+10delinsTGG	XP_011531640.1:n.7950+8_7950+10delinsTGG
XR_940369.1:n.8046+8_8046+10delinsTGG
XR_940370.1:n.8046+8_8046+10delinsTGG
XR_940371.1:n.8046+8_8046+10delinsTGG
XM_017005688.1:c.7923+8_7923+10delinsTGG	XP_016861177.1:n.7923+8_7923+10delinsTGG
XR_001740003.1:n.8019+8_8019+10delinsTGG
XR_001740004.1:n.8019+8_8019+10delinsTGG
XR_001740005.1:n.8019+8_8019+10delinsTGG
NM_000094.4:c.7983+8_7983+10delinsTGG MANE Select	NP_000085.1:n.7983+8_7983+10delinsTGG