Canonical Allele Identifier: CA291544291
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs67891211
MyVariant Identifiers: chr17:g.48270056del (hg19) chr17:g.50192695del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192695del , CM000679.2:g.50192695del GRCh38
NC_000017.10:g.48270056del , CM000679.1:g.48270056del GRCh37
NC_000017.9:g.45625055del NCBI36
NG_007400.1:g.13945del , LRG_1:g.13945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1876-2del MANE Select ENSP00000225964.6:n.1876-2del
ENST00000225964.9:c.1876-2del ENSP00000225964.5:n.1876-2del
ENST00000476387.1:n.225-2del
NM_000088.3:c.1876-2del , LRG_1t1:c.1876-2del NP_000079.2:n.1876-2del
XM_005257058.3:c.1876-2del XP_005257115.2:n.1876-2del
XM_005257059.3:c.958-2del XP_005257116.2:n.958-2del
XM_011524341.1:c.1678-2del XP_011522643.1:n.1678-2del
XM_005257058.4:c.1876-2del XP_005257115.2:n.1876-2del
XM_005257059.4:c.958-2del XP_005257116.2:n.958-2del
NM_000088.4:c.1876-2del MANE Select NP_000079.2:n.1876-2del
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