Canonical Allele Identifier: CA2378211

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1149231
• ClinVar RCV Id: RCV001489401
• dbSNP Id: rs66737445
• ExAC: 3:48605075 G / GA
• gnomAD v2: 3-48605075-G-GA
• gnomAD v3: 3-48567642-G-GA
• gnomAD v4: 3-48567642-G-GA
• MyVariant Identifiers: chr3:g.48605076_48605077insA (hg19) ; chr3:g.48605075_48605076insA (hg19) ; chr3:g.48567643_48567644insA (hg38) ; chr3:g.48567642_48567643insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567649dup , CM000665.2:g.48567649dup	GRCh38
NC_000003.11:g.48605082dup , CM000665.1:g.48605082dup	GRCh37
NC_000003.10:g.48580086dup	NCBI36
NG_007065.1:g.32610dup , LRG_286:g.32610dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-7dup MANE Select	ENSP00000506558.1:n.7984-7dup
ENST00000328333.12:c.7984-7dup	ENSP00000332371.8:n.7984-7dup
ENST00000487017.5:n.4623-7dup
NM_000094.3:c.7984-7dup , LRG_286t1:c.7984-7dup	NP_000085.1:n.7984-7dup
XM_011533336.1:c.8011-7dup	XP_011531638.1:n.8011-7dup
XM_011533337.1:c.7984-7dup	XP_011531639.1:n.7984-7dup
XM_011533338.1:c.7951-7dup	XP_011531640.1:n.7951-7dup
XR_940369.1:n.8047-7dup
XR_940370.1:n.8047-7dup
XR_940371.1:n.8047-7dup
XM_017005688.1:c.7924-7dup	XP_016861177.1:n.7924-7dup
XR_001740003.1:n.8020-7dup
XR_001740004.1:n.8020-7dup
XR_001740005.1:n.8020-7dup
NM_000094.4:c.7984-7dup MANE Select	NP_000085.1:n.7984-7dup