Canonical Allele Identifier: CA542788411

Gene: COL7A1

Linked Data

• dbSNP Id: rs767210608
• gnomAD v2: 3-48606181-A-ACCTGGGCCTGGG
• gnomAD v4: 3-48568748-A-ACCTGGGCCTGGG
• MyVariant Identifiers: chr3:g.48606187_48606188insCCTGGGCCTGGG (hg19) ; chr3:g.48568754_48568755insCCTGGGCCTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568761_48568772dup , CM000665.2:g.48568761_48568772dup	GRCh38
NC_000003.11:g.48606194_48606205dup , CM000665.1:g.48606194_48606205dup	GRCh37
NC_000003.10:g.48581198_48581209dup	NCBI36
NG_007065.1:g.31493_31504dup , LRG_286:g.31493_31504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+24_7758+35dup MANE Select	ENSP00000506558.1:n.7758+24_7758+35dup
ENST00000328333.12:c.7758+24_7758+35dup	ENSP00000332371.8:n.7758+24_7758+35dup
ENST00000459756.5:n.581+24_581+35dup
ENST00000467985.1:n.604+24_604+35dup
ENST00000487017.5:n.4397+24_4397+35dup
NM_000094.3:c.7758+24_7758+35dup , LRG_286t1:c.7758+24_7758+35dup	NP_000085.1:n.7758+24_7758+35dup
XM_011533336.1:c.7785+24_7785+35dup	XP_011531638.1:n.7785+24_7785+35dup
XM_011533337.1:c.7758+24_7758+35dup	XP_011531639.1:n.7758+24_7758+35dup
XM_011533338.1:c.7725+24_7725+35dup	XP_011531640.1:n.7725+24_7725+35dup
XM_011533339.1:c.7785+24_7785+35dup	XP_011531641.1:n.7785+24_7785+35dup
XR_940369.1:n.7821+24_7821+35dup
XR_940370.1:n.7821+24_7821+35dup
XR_940371.1:n.7821+24_7821+35dup
XR_940372.1:n.7795+24_7795+35dup
XM_017005688.1:c.7698+24_7698+35dup	XP_016861177.1:n.7698+24_7698+35dup
XM_017005689.1:c.7758+24_7758+35dup	XP_016861178.1:n.7758+24_7758+35dup
XR_001740003.1:n.7794+24_7794+35dup
XR_001740004.1:n.7794+24_7794+35dup
XR_001740005.1:n.7794+24_7794+35dup
XR_001740006.1:n.7768+24_7768+35dup
NM_000094.4:c.7758+24_7758+35dup MANE Select	NP_000085.1:n.7758+24_7758+35dup