Canonical Allele Identifier: CA2377923

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565091_48565092insGCA , CM000665.2:g.48565091_48565092insGCA	GRCh38
NC_000003.11:g.48602524_48602525insGCA , CM000665.1:g.48602524_48602525insGCA	GRCh37
NC_000003.10:g.48577528_48577529insGCA	NCBI36
NG_007065.1:g.35161_35162insTGC , LRG_286:g.35161_35162insTGC

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8620+17_8620+18insTGC MANE Select	NP_000085.1:n.8620+17_8620+18insTGC
ENST00000681320.1:c.8620+17_8620+18insTGC MANE Select	ENSP00000506558.1:n.8620+17_8620+18insTGC
NM_000094.3:c.8620+17_8620+18insTGC , LRG_286t1:c.8620+17_8620+18insTGC	NP_000085.1:n.8620+17_8620+18insTGC
ENST00000328333.12:c.8620+17_8620+18insTGC	ENSP00000332371.8:n.8620+17_8620+18insTGC
ENST00000466591.1:n.231+17_231+18insTGC
ENST00000487017.5:n.5259+17_5259+18insTGC
XM_011533336.1:c.8647+17_8647+18insTGC	XP_011531638.1:n.8647+17_8647+18insTGC
XM_011533337.1:c.8620+17_8620+18insTGC	XP_011531639.1:n.8620+17_8620+18insTGC
XM_011533338.1:c.8587+17_8587+18insTGC	XP_011531640.1:n.8587+17_8587+18insTGC
XM_017005688.1:c.8560+17_8560+18insTGC	XP_016861177.1:n.8560+17_8560+18insTGC
XR_001740003.1:n.8729+17_8729+18insTGC
XR_001740004.1:n.8693+17_8693+18insTGC
XR_001740005.1:n.8690+17_8690+18insTGC
XR_940369.1:n.8756+17_8756+18insTGC
XR_940370.1:n.8720+17_8720+18insTGC
XR_940371.1:n.8717+17_8717+18insTGC