Canonical Allele Identifier: CA626485700
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1459073596
gnomAD v2: 17-48262715-CA-C
gnomAD v3: 17-50185354-CA-C
gnomAD v4: 17-50185354-CA-C
MyVariant Identifiers: chr17:g.48262716del (hg19) chr17:g.50185355del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185357del , CM000679.2:g.50185357del GRCh38
NC_000017.10:g.48262718del , CM000679.1:g.48262718del GRCh37
NC_000017.9:g.45617717del NCBI36
NG_007400.1:g.21285del , LRG_1:g.21285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*147del MANE Select ENSP00000225964.6:n.*147del
ENST00000225964.9:c.*147del ENSP00000225964.5:n.*147del
NM_000088.3:c.*147del , LRG_1t1:c.*147del NP_000079.2:n.*147del
XM_005257058.3:c.*147del XP_005257115.2:n.*147del
XM_005257059.3:c.*147del XP_005257116.2:n.*147del
XM_011524341.1:c.*147del XP_011522643.1:n.*147del
XM_005257058.4:c.*147del XP_005257115.2:n.*147del
XM_005257059.4:c.*147del XP_005257116.2:n.*147del
NM_000088.4:c.*147del MANE Select NP_000079.2:n.*147del
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