Canonical Allele Identifier: CA907755273

Gene: COL7A1

Linked Data

• dbSNP Id: rs1194947059
• MyVariant Identifiers: chr3:g.48602908_48602910del (hg19) ; chr3:g.48565475_48565477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565478_48565480del , CM000665.2:g.48565478_48565480del	GRCh38
NC_000003.11:g.48602911_48602913del , CM000665.1:g.48602911_48602913del	GRCh37
NC_000003.10:g.48577915_48577917del	NCBI36
NG_007065.1:g.34776_34778del , LRG_286:g.34776_34778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8460_8462del MANE Select	ENSP00000506558.1:p.Ala2821del
ENST00000328333.12:c.8460_8462del	ENSP00000332371.8:p.Ala2821del
ENST00000487017.5:n.5099_5101del
NM_000094.3:c.8460_8462del , LRG_286t1:c.8460_8462del	NP_000085.1:p.Ala2821del
XM_011533336.1:c.8487_8489del	XP_011531638.1:p.Ala2830del
XM_011533337.1:c.8460_8462del	XP_011531639.1:p.Ala2821del
XM_011533338.1:c.8427_8429del	XP_011531640.1:p.Ala2810del
XR_940369.1:n.8523_8525del
XR_940370.1:n.8523_8525del
XR_940371.1:n.8523_8525del
XM_017005688.1:c.8400_8402del	XP_016861177.1:p.Ala2801del
XR_001740003.1:n.8496_8498del
XR_001740004.1:n.8496_8498del
XR_001740005.1:n.8496_8498del
NM_000094.4:c.8460_8462del MANE Select	NP_000085.1:p.Ala2821del