Canonical Allele Identifier: CA291550378
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357973
ClinVar RCV Id: RCV001863955
dbSNP Id: rs72667016
gnomAD v2: 17-48276625-CG-C
gnomAD v4: 17-50199264-CG-C
MyVariant Identifiers: chr17:g.48276626del (hg19) chr17:g.50199266del (hg38) chr17:g.50199265del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199270del , CM000679.2:g.50199270del GRCh38
NC_000017.10:g.48276631del , CM000679.1:g.48276631del GRCh37
NC_000017.9:g.45631630del NCBI36
NG_007400.1:g.7375del , LRG_1:g.7375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.432del MANE Select ENSP00000225964.6:p.Gly145AspfsTer?
ENST00000225964.9:c.432del ENSP00000225964.5:p.Gly145AspfsTer?
NM_000088.3:c.432del , LRG_1t1:c.432del NP_000079.2:p.Gly145AspfsTer?
XM_005257058.3:c.432del XP_005257115.2:p.Gly145AspfsTer?
XM_005257059.3:c.432del XP_005257116.2:p.Gly145AspfsTer?
XM_011524341.1:c.432del XP_011522643.1:p.Gly145AspfsTer?
XM_005257058.4:c.432del XP_005257115.2:p.Gly145AspfsTer?
XM_005257059.4:c.432del XP_005257116.2:p.Gly145AspfsTer?
NM_000088.4:c.432del MANE Select NP_000079.2:p.Gly145AspfsTer?
Search 100 bp 5'
Search 100 bp 3'