Canonical Allele Identifier: CA2665618817

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567794-A-AGGCCCCAGGCCACGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567795_48567811dup , CM000665.2:g.48567795_48567811dup	GRCh38
NC_000003.11:g.48605228_48605244dup , CM000665.1:g.48605228_48605244dup	GRCh37
NC_000003.10:g.48580232_48580248dup	NCBI36
NG_007065.1:g.32442_32458dup , LRG_286:g.32442_32458dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+27_7930-32dup MANE Select	ENSP00000506558.1:n.7929+27_7930-32dup
ENST00000328333.12:c.7929+27_7930-32dup	ENSP00000332371.8:n.7929+27_7930-32dup
ENST00000459756.5:n.752+27_753-32dup
ENST00000487017.5:n.4568+27_4569-32dup
NM_000094.3:c.7929+27_7930-32dup , LRG_286t1:c.7929+27_7930-32dup	NP_000085.1:n.7929+27_7930-32dup
XM_011533336.1:c.7956+27_7957-32dup	XP_011531638.1:n.7956+27_7957-32dup
XM_011533337.1:c.7929+27_7930-32dup	XP_011531639.1:n.7929+27_7930-32dup
XM_011533338.1:c.7896+27_7897-32dup	XP_011531640.1:n.7896+27_7897-32dup
XR_940369.1:n.7992+27_7993-32dup
XR_940370.1:n.7992+27_7993-32dup
XR_940371.1:n.7992+27_7993-32dup
XM_017005688.1:c.7869+27_7870-32dup	XP_016861177.1:n.7869+27_7870-32dup
XR_001740003.1:n.7965+27_7966-32dup
XR_001740004.1:n.7965+27_7966-32dup
XR_001740005.1:n.7965+27_7966-32dup
NM_000094.4:c.7929+27_7930-32dup MANE Select	NP_000085.1:n.7929+27_7930-32dup