Canonical Allele Identifier: CA542788052

Gene: COL7A1

Linked Data

• dbSNP Id: rs1191147465
• gnomAD v2: 3-48605031-GCCAGGGGCCCCCGACTGGCCCGGCACA-G
• gnomAD v4: 3-48567598-GCCAGGGGCCCCCGACTGGCCCGGCACA-G
• MyVariant Identifiers: chr3:g.48605032_48605058del (hg19) ; chr3:g.48567599_48567625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567604_48567630del , CM000665.2:g.48567604_48567630del	GRCh38
NC_000003.11:g.48605037_48605063del , CM000665.1:g.48605037_48605063del	GRCh37
NC_000003.10:g.48580041_48580067del	NCBI36
NG_007065.1:g.32628_32654del , LRG_286:g.32628_32654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7995_8021del MANE Select	ENSP00000506558.1:p.Val2666_Gly2674del
ENST00000328333.12:c.7995_8021del	ENSP00000332371.8:p.Val2666_Gly2674del
ENST00000487017.5:n.4634_4660del
NM_000094.3:c.7995_8021del , LRG_286t1:c.7995_8021del	NP_000085.1:p.Val2666_Gly2674del
XM_011533336.1:c.8022_8048del	XP_011531638.1:p.Val2675_Gly2683del
XM_011533337.1:c.7995_8021del	XP_011531639.1:p.Val2666_Gly2674del
XM_011533338.1:c.7962_7988del	XP_011531640.1:p.Val2655_Gly2663del
XR_940369.1:n.8058_8084del
XR_940370.1:n.8058_8084del
XR_940371.1:n.8058_8084del
XM_017005688.1:c.7935_7961del	XP_016861177.1:p.Val2646_Gly2654del
XR_001740003.1:n.8031_8057del
XR_001740004.1:n.8031_8057del
XR_001740005.1:n.8031_8057del
NM_000094.4:c.7995_8021del MANE Select	NP_000085.1:p.Val2666_Gly2674del