Canonical Allele Identifier: CA2756157867

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567341_48567342insCCCCCCCAA , CM000665.2:g.48567341_48567342insCCCCCCCAA	GRCh38
NC_000003.11:g.48604774_48604775insCCCCCCCAA , CM000665.1:g.48604774_48604775insCCCCCCCAA	GRCh37
NC_000003.10:g.48579778_48579779insCCCCCCCAA	NCBI36
NG_007065.1:g.32912_32913insTGGGGGGGT , LRG_286:g.32912_32913insTGGGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-151_8047-150insTGGGGGGGT MANE Select	ENSP00000506558.1:n.8047-151_8047-150insTGGGGGGGT
ENST00000328333.12:c.8047-151_8047-150insTGGGGGGGT	ENSP00000332371.8:n.8047-151_8047-150insTGGGGGGGT
ENST00000474432.1:n.23_24insTGGGGGGGT
ENST00000487017.5:n.4686-151_4686-150insTGGGGGGGT
NM_000094.3:c.8047-151_8047-150insTGGGGGGGT , LRG_286t1:c.8047-151_8047-150insTGGGGGGGT	NP_000085.1:n.8047-151_8047-150insTGGGGGGGT
XM_011533336.1:c.8074-151_8074-150insTGGGGGGGT	XP_011531638.1:n.8074-151_8074-150insTGGGGGGGT
XM_011533337.1:c.8047-151_8047-150insTGGGGGGGT	XP_011531639.1:n.8047-151_8047-150insTGGGGGGGT
XM_011533338.1:c.8014-151_8014-150insTGGGGGGGT	XP_011531640.1:n.8014-151_8014-150insTGGGGGGGT
XR_940369.1:n.8110-151_8110-150insTGGGGGGGT
XR_940370.1:n.8110-151_8110-150insTGGGGGGGT
XR_940371.1:n.8110-151_8110-150insTGGGGGGGT
XM_017005688.1:c.7987-151_7987-150insTGGGGGGGT	XP_016861177.1:n.7987-151_7987-150insTGGGGGGGT
XR_001740003.1:n.8083-151_8083-150insTGGGGGGGT
XR_001740004.1:n.8083-151_8083-150insTGGGGGGGT
XR_001740005.1:n.8083-151_8083-150insTGGGGGGGT
NM_000094.4:c.8047-151_8047-150insTGGGGGGGT MANE Select	NP_000085.1:n.8047-151_8047-150insTGGGGGGGT