Canonical Allele Identifier: CA291547682
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2138080
ClinVar RCV Id: RCV003041319
dbSNP Id: rs67047255
MyVariant Identifiers: chr17:g.48274596del (hg19) chr17:g.50197235del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197235del , CM000679.2:g.50197235del GRCh38
NC_000017.10:g.48274596del , CM000679.1:g.48274596del GRCh37
NC_000017.9:g.45629595del NCBI36
NG_007400.1:g.9405del , LRG_1:g.9405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.697-2del MANE Select ENSP00000225964.6:n.697-2del
ENST00000225964.9:c.697-2del ENSP00000225964.5:n.697-2del
ENST00000495677.1:n.424-2del
NM_000088.3:c.697-2del , LRG_1t1:c.697-2del NP_000079.2:n.697-2del
XM_005257058.3:c.697-2del XP_005257115.2:n.697-2del
XM_005257059.3:c.697-2del XP_005257116.2:n.697-2del
XM_011524341.1:c.697-2del XP_011522643.1:n.697-2del
XM_005257058.4:c.697-2del XP_005257115.2:n.697-2del
XM_005257059.4:c.697-2del XP_005257116.2:n.697-2del
NM_000088.4:c.697-2del MANE Select NP_000079.2:n.697-2del
Search 100 bp 5'
Search 100 bp 3'