Canonical Allele Identifier: CA2665618198

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567305-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567305_48567306insGT , CM000665.2:g.48567305_48567306insGT	GRCh38
NC_000003.11:g.48604738_48604739insGT , CM000665.1:g.48604738_48604739insGT	GRCh37
NC_000003.10:g.48579742_48579743insGT	NCBI36
NG_007065.1:g.32947_32948insAC , LRG_286:g.32947_32948insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-116_8047-115insAC MANE Select	ENSP00000506558.1:n.8047-116_8047-115insAC
ENST00000328333.12:c.8047-116_8047-115insAC	ENSP00000332371.8:n.8047-116_8047-115insAC
ENST00000474432.1:n.58_59insAC
ENST00000487017.5:n.4686-116_4686-115insAC
NM_000094.3:c.8047-116_8047-115insAC , LRG_286t1:c.8047-116_8047-115insAC	NP_000085.1:n.8047-116_8047-115insAC
XM_011533336.1:c.8074-116_8074-115insAC	XP_011531638.1:n.8074-116_8074-115insAC
XM_011533337.1:c.8047-116_8047-115insAC	XP_011531639.1:n.8047-116_8047-115insAC
XM_011533338.1:c.8014-116_8014-115insAC	XP_011531640.1:n.8014-116_8014-115insAC
XR_940369.1:n.8110-116_8110-115insAC
XR_940370.1:n.8110-116_8110-115insAC
XR_940371.1:n.8110-116_8110-115insAC
XM_017005688.1:c.7987-116_7987-115insAC	XP_016861177.1:n.7987-116_7987-115insAC
XR_001740003.1:n.8083-116_8083-115insAC
XR_001740004.1:n.8083-116_8083-115insAC
XR_001740005.1:n.8083-116_8083-115insAC
NM_000094.4:c.8047-116_8047-115insAC MANE Select	NP_000085.1:n.8047-116_8047-115insAC