Canonical Allele Identifier: CA73973430

Gene: COL7A1

Linked Data

• dbSNP Id: rs767210608
• gnomAD v2: 3-48606181-ACCTGGG-A
• gnomAD v3: 3-48568748-ACCTGGG-A
• gnomAD v4: 3-48568748-ACCTGGG-A
• MyVariant Identifiers: chr3:g.48606182_48606187del (hg19) ; chr3:g.48568749_48568754del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568767_48568772del , CM000665.2:g.48568767_48568772del	GRCh38
NC_000003.11:g.48606200_48606205del , CM000665.1:g.48606200_48606205del	GRCh37
NC_000003.10:g.48581204_48581209del	NCBI36
NG_007065.1:g.31499_31504del , LRG_286:g.31499_31504del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7758+30_7758+35del MANE Select	ENSP00000506558.1:n.7758+30_7758+35del
ENST00000328333.12:c.7758+30_7758+35del	ENSP00000332371.8:n.7758+30_7758+35del
ENST00000459756.5:n.581+30_581+35del
ENST00000467985.1:n.604+30_604+35del
ENST00000487017.5:n.4397+30_4397+35del
NM_000094.3:c.7758+30_7758+35del , LRG_286t1:c.7758+30_7758+35del	NP_000085.1:n.7758+30_7758+35del
XM_011533336.1:c.7785+30_7785+35del	XP_011531638.1:n.7785+30_7785+35del
XM_011533337.1:c.7758+30_7758+35del	XP_011531639.1:n.7758+30_7758+35del
XM_011533338.1:c.7725+30_7725+35del	XP_011531640.1:n.7725+30_7725+35del
XM_011533339.1:c.7785+30_7785+35del	XP_011531641.1:n.7785+30_7785+35del
XR_940369.1:n.7821+30_7821+35del
XR_940370.1:n.7821+30_7821+35del
XR_940371.1:n.7821+30_7821+35del
XR_940372.1:n.7795+30_7795+35del
XM_017005688.1:c.7698+30_7698+35del	XP_016861177.1:n.7698+30_7698+35del
XM_017005689.1:c.7758+30_7758+35del	XP_016861178.1:n.7758+30_7758+35del
XR_001740003.1:n.7794+30_7794+35del
XR_001740004.1:n.7794+30_7794+35del
XR_001740005.1:n.7794+30_7794+35del
XR_001740006.1:n.7768+30_7768+35del
NM_000094.4:c.7758+30_7758+35del MANE Select	NP_000085.1:n.7758+30_7758+35del