Canonical Allele Identifier: CA2378507

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 968539
• ClinVar RCV Id: RCV001243694
• dbSNP Id: rs750153731
• ExAC: 3:48607703 CGTACCCGG / C
• gnomAD v2: 3-48607703-CGTACCCGG-C
• gnomAD v4: 3-48570270-CGTACCCGG-C
• MyVariant Identifiers: chr3:g.48607704_48607711del (hg19) ; chr3:g.48570271_48570278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570271_48570278del , CM000665.2:g.48570271_48570278del	GRCh38
NC_000003.11:g.48607704_48607711del , CM000665.1:g.48607704_48607711del	GRCh37
NC_000003.10:g.48582708_48582715del	NCBI36
NG_007065.1:g.29975_29982del , LRG_286:g.29975_29982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7437_7440+4del
ENST00000328333.12:c.7437_7440+4del
ENST00000422991.1:c.432_435+4del
ENST00000459756.5:n.164_171del
ENST00000467985.1:n.187_194del
ENST00000487017.5:n.4076_4079+4del
NM_000094.3:c.7437_7440+4del , LRG_286t1:c.7437_7440+4del
XM_011533336.1:c.7464_7467+4del
XM_011533337.1:c.7437_7440+4del
XM_011533338.1:c.7408-100_7408-93del	XP_011531640.1:n.7408-100_7408-93del
XM_011533339.1:c.7464_7467+4del
XM_011533340.1:c.7408-26_7408-19del	XP_011531642.1:n.7408-26_7408-19del
XM_011533341.1:c.7382-26_7382-19del	XP_011531643.1:n.7382-26_7382-19del
XM_011533342.1:c.7382-100_7382-93del	XP_011531644.1:n.7382-100_7382-93del
XR_940369.1:n.7500_7503+4del
XR_940370.1:n.7500_7503+4del
XR_940371.1:n.7500_7503+4del
XR_940372.1:n.7474_7477+4del
XM_017005688.1:c.7381-100_7381-93del	XP_016861177.1:n.7381-100_7381-93del
XM_017005689.1:c.7437_7440+4del
XM_017005690.1:c.7381-26_7381-19del	XP_016861179.1:n.7381-26_7381-19del
XM_017005691.1:c.7355-26_7355-19del	XP_016861180.1:n.7355-26_7355-19del
XM_017005692.1:c.7355-100_7355-93del	XP_016861181.1:n.7355-100_7355-93del
XR_001740003.1:n.7473_7476+4del
XR_001740004.1:n.7473_7476+4del
XR_001740005.1:n.7473_7476+4del
XR_001740006.1:n.7447_7450+4del
NM_000094.4:c.7437_7440+4del