Canonical Allele Identifier: CA2580069928

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1910935
• ClinVar RCV Id: RCV002589487

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572551_48572552insCTGTGGG , CM000665.2:g.48572551_48572552insCTGTGGG	GRCh38
NC_000003.11:g.48609984_48609985insCTGTGGG , CM000665.1:g.48609984_48609985insCTGTGGG	GRCh37
NC_000003.10:g.48584988_48584989insCTGTGGG	NCBI36
NG_007065.1:g.27701_27702insCCCACAG , LRG_286:g.27701_27702insCCCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6901-14_6901-13insCCCACAG MANE Select	ENSP00000506558.1:n.6901-14_6901-13insCCCACAG
ENST00000328333.12:c.6901-14_6901-13insCCCACAG	ENSP00000332371.8:n.6901-14_6901-13insCCCACAG
ENST00000487017.5:n.2818-14_2818-13insCCCACAG
NM_000094.3:c.6901-14_6901-13insCCCACAG , LRG_286t1:c.6901-14_6901-13insCCCACAG	NP_000085.1:n.6901-14_6901-13insCCCACAG
XM_011533336.1:c.6928-14_6928-13insCCCACAG	XP_011531638.1:n.6928-14_6928-13insCCCACAG
XM_011533337.1:c.6901-14_6901-13insCCCACAG	XP_011531639.1:n.6901-14_6901-13insCCCACAG
XM_011533338.1:c.6928-14_6928-13insCCCACAG	XP_011531640.1:n.6928-14_6928-13insCCCACAG
XM_011533339.1:c.6928-14_6928-13insCCCACAG	XP_011531641.1:n.6928-14_6928-13insCCCACAG
XM_011533340.1:c.6928-14_6928-13insCCCACAG	XP_011531642.1:n.6928-14_6928-13insCCCACAG
XM_011533341.1:c.6928-14_6928-13insCCCACAG	XP_011531643.1:n.6928-14_6928-13insCCCACAG
XM_011533342.1:c.6928-14_6928-13insCCCACAG	XP_011531644.1:n.6928-14_6928-13insCCCACAG
XR_940369.1:n.6964-14_6964-13insCCCACAG
XR_940370.1:n.6964-14_6964-13insCCCACAG
XR_940371.1:n.6964-14_6964-13insCCCACAG
XR_940372.1:n.6964-14_6964-13insCCCACAG
XR_940373.1:n.6964-14_6964-13insCCCACAG
XR_940374.1:n.6974-14_6974-13insCCCACAG
XM_017005688.1:c.6901-14_6901-13insCCCACAG	XP_016861177.1:n.6901-14_6901-13insCCCACAG
XM_017005689.1:c.6901-14_6901-13insCCCACAG	XP_016861178.1:n.6901-14_6901-13insCCCACAG
XM_017005690.1:c.6901-14_6901-13insCCCACAG	XP_016861179.1:n.6901-14_6901-13insCCCACAG
XM_017005691.1:c.6901-14_6901-13insCCCACAG	XP_016861180.1:n.6901-14_6901-13insCCCACAG
XM_017005692.1:c.6901-14_6901-13insCCCACAG	XP_016861181.1:n.6901-14_6901-13insCCCACAG
XR_001740003.1:n.6937-14_6937-13insCCCACAG
XR_001740004.1:n.6937-14_6937-13insCCCACAG
XR_001740005.1:n.6937-14_6937-13insCCCACAG
XR_001740006.1:n.6937-14_6937-13insCCCACAG
XR_001740007.1:n.6937-14_6937-13insCCCACAG
XR_001740008.1:n.6947-14_6947-13insCCCACAG
NM_000094.4:c.6901-14_6901-13insCCCACAG MANE Select	NP_000085.1:n.6901-14_6901-13insCCCACAG