Canonical Allele Identifier: CA2379954
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933947
ClinVar RCV Id: RCV001202264
dbSNP Id: rs2044843806
ExAC: 3:48619987 AGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC / A
gnomAD v2: 3-48619987-AGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC-A
gnomAD v3: 3-48582554-AGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC-A
gnomAD v4: 3-48582554-AGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC-A
MyVariant Identifiers: chr3:g.48619988_48620074del (hg19) chr3:g.48582555_48582641del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48582555_48582641del , CM000665.2:g.48582555_48582641del GRCh38
NC_000003.11:g.48619988_48620074del , CM000665.1:g.48619988_48620074del GRCh37
NC_000003.10:g.48594992_48595078del NCBI36
NG_007065.1:g.17612_17698del , LRG_286:g.17612_17698del

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.4531_4564-42del
ENST00000328333.12:c.4531_4564-42del
ENST00000487017.5:n.448_481-42del
NM_000094.3:c.4531_4564-42del , LRG_286t1:c.4531_4564-42del
XM_011533336.1:c.4558_4591-42del
XM_011533337.1:c.4531_4564-42del
XM_011533338.1:c.4558_4591-42del
XM_011533339.1:c.4558_4591-42del
XM_011533340.1:c.4558_4591-42del
XM_011533341.1:c.4558_4591-42del
XM_011533342.1:c.4558_4591-42del
XR_940369.1:n.4594_4627-42del
XR_940370.1:n.4594_4627-42del
XR_940371.1:n.4594_4627-42del
XR_940372.1:n.4594_4627-42del
XR_940373.1:n.4594_4627-42del
XR_940374.1:n.4594_4627-42del
XR_940375.1:n.4594_4627-42del
XM_017005688.1:c.4531_4564-42del
XM_017005689.1:c.4531_4564-42del
XM_017005690.1:c.4531_4564-42del
XM_017005691.1:c.4531_4564-42del
XM_017005692.1:c.4531_4564-42del
XR_001740003.1:n.4567_4600-42del
XR_001740004.1:n.4567_4600-42del
XR_001740005.1:n.4567_4600-42del
XR_001740006.1:n.4567_4600-42del
XR_001740007.1:n.4567_4600-42del
XR_001740008.1:n.4567_4600-42del
XR_001740009.1:n.4567_4600-42del
NM_000094.4:c.4531_4564-42del
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