Canonical Allele Identifier: CA542787831

Gene: COL7A1

Linked Data

• dbSNP Id: rs1560194228
• gnomAD v2: 3-48603916-C-CCCAGGCCCAT
• gnomAD v3: 3-48566483-C-CCCAGGCCCAT
• gnomAD v4: 3-48566483-C-CCCAGGCCCAT
• MyVariant Identifiers: chr3:g.48603916_48603917insCCAGGCCCAT (hg19) ; chr3:g.48566483_48566484insCCAGGCCCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566493_48566502dup , CM000665.2:g.48566493_48566502dup	GRCh38
NC_000003.11:g.48603926_48603935dup , CM000665.1:g.48603926_48603935dup	GRCh37
NC_000003.10:g.48578930_48578939dup	NCBI36
NG_007065.1:g.33760_33769dup , LRG_286:g.33760_33769dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8358+17_8358+26dup MANE Select	ENSP00000506558.1:n.8358+17_8358+26dup
ENST00000328333.12:c.8358+17_8358+26dup	ENSP00000332371.8:n.8358+17_8358+26dup
ENST00000487017.5:n.4997+17_4997+26dup
NM_000094.3:c.8358+17_8358+26dup , LRG_286t1:c.8358+17_8358+26dup	NP_000085.1:n.8358+17_8358+26dup
XM_011533336.1:c.8385+17_8385+26dup	XP_011531638.1:n.8385+17_8385+26dup
XM_011533337.1:c.8358+17_8358+26dup	XP_011531639.1:n.8358+17_8358+26dup
XM_011533338.1:c.8325+17_8325+26dup	XP_011531640.1:n.8325+17_8325+26dup
XR_940369.1:n.8421+17_8421+26dup
XR_940370.1:n.8421+17_8421+26dup
XR_940371.1:n.8421+17_8421+26dup
XM_017005688.1:c.8298+17_8298+26dup	XP_016861177.1:n.8298+17_8298+26dup
XR_001740003.1:n.8394+17_8394+26dup
XR_001740004.1:n.8394+17_8394+26dup
XR_001740005.1:n.8394+17_8394+26dup
NM_000094.4:c.8358+17_8358+26dup MANE Select	NP_000085.1:n.8358+17_8358+26dup