Canonical Allele Identifier: CA2809757738
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50184964_50184972del , CM000679.2:g.50184964_50184972del GRCh38
NC_000017.10:g.48262325_48262333del , CM000679.1:g.48262325_48262333del GRCh37
NC_000017.9:g.45617324_45617332del NCBI36
NG_007400.1:g.21675_21683del , LRG_1:g.21675_21683del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.*537_*545del MANE Select ENSP00000225964.6:n.*537_*545del
ENST00000225964.9:c.*537_*545del ENSP00000225964.5:n.*537_*545del
NM_000088.3:c.*537_*545del , LRG_1t1:c.*537_*545del NP_000079.2:n.*537_*545del
XM_005257058.3:c.*537_*545del XP_005257115.2:n.*537_*545del
XM_005257059.3:c.*537_*545del XP_005257116.2:n.*537_*545del
XM_011524341.1:c.*537_*545del XP_011522643.1:n.*537_*545del
XM_005257058.4:c.*537_*545del XP_005257115.2:n.*537_*545del
XM_005257059.4:c.*537_*545del XP_005257116.2:n.*537_*545del
NM_000088.4:c.*537_*545del MANE Select NP_000079.2:n.*537_*545del
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