Canonical Allele Identifier: CA2665623876

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48583037-TCCACGTTCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48583040_48583049del , CM000665.2:g.48583040_48583049del	GRCh38
NC_000003.11:g.48620473_48620482del , CM000665.1:g.48620473_48620482del	GRCh37
NC_000003.10:g.48595477_48595486del	NCBI36
NG_007065.1:g.17206_17215del , LRG_286:g.17206_17215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.4484_4493del
ENST00000328333.12:c.4484_4493del
ENST00000487017.5:n.401_410del
NM_000094.3:c.4484_4493del , LRG_286t1:c.4484_4493del
XM_011533336.1:c.4511_4520del
XM_011533337.1:c.4484_4493del
XM_011533338.1:c.4511_4520del
XM_011533339.1:c.4511_4520del
XM_011533340.1:c.4511_4520del
XM_011533341.1:c.4511_4520del
XM_011533342.1:c.4511_4520del
XR_940369.1:n.4547_4556del
XR_940370.1:n.4547_4556del
XR_940371.1:n.4547_4556del
XR_940372.1:n.4547_4556del
XR_940373.1:n.4547_4556del
XR_940374.1:n.4547_4556del
XR_940375.1:n.4547_4556del
XM_017005688.1:c.4484_4493del
XM_017005689.1:c.4484_4493del
XM_017005690.1:c.4484_4493del
XM_017005691.1:c.4484_4493del
XM_017005692.1:c.4484_4493del
XR_001740003.1:n.4520_4529del
XR_001740004.1:n.4520_4529del
XR_001740005.1:n.4520_4529del
XR_001740006.1:n.4520_4529del
XR_001740007.1:n.4520_4529del
XR_001740008.1:n.4520_4529del
XR_001740009.1:n.4520_4529del
NM_000094.4:c.4484_4493del