Canonical Allele Identifier: CA2595039658
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v3: 17-50198825-TC-T
gnomAD v4: 17-50198825-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50198828del , CM000679.2:g.50198828del GRCh38
NC_000017.10:g.48276189del , CM000679.1:g.48276189del GRCh37
NC_000017.9:g.45631188del NCBI36
NG_007400.1:g.7814del , LRG_1:g.7814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.472-322del MANE Select ENSP00000225964.6:n.472-322del
ENST00000225964.9:c.472-322del ENSP00000225964.5:n.472-322del
NM_000088.3:c.472-322del , LRG_1t1:c.472-322del NP_000079.2:n.472-322del
XM_005257058.3:c.472-322del XP_005257115.2:n.472-322del
XM_005257059.3:c.472-322del XP_005257116.2:n.472-322del
XM_011524341.1:c.472-322del XP_011522643.1:n.472-322del
XM_005257058.4:c.472-322del XP_005257115.2:n.472-322del
XM_005257059.4:c.472-322del XP_005257116.2:n.472-322del
NM_000088.4:c.472-322del MANE Select NP_000079.2:n.472-322del
Search 100 bp 5'
Search 100 bp 3'