Canonical Allele Identifier: CA2638704595
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50185723-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185728del , CM000679.2:g.50185728del GRCh38
NC_000017.10:g.48263089del , CM000679.1:g.48263089del GRCh37
NC_000017.9:g.45618088del NCBI36
NG_007400.1:g.20916del , LRG_1:g.20916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4248+54del MANE Select ENSP00000225964.6:n.4248+54del
ENST00000225964.9:c.4248+54del ENSP00000225964.5:n.4248+54del
NM_000088.3:c.4248+54del , LRG_1t1:c.4248+54del NP_000079.2:n.4248+54del
XM_005257058.3:c.3978+54del XP_005257115.2:n.3978+54del
XM_005257059.3:c.3330+54del XP_005257116.2:n.3330+54del
XM_011524341.1:c.4050+54del XP_011522643.1:n.4050+54del
XM_005257058.4:c.3978+54del XP_005257115.2:n.3978+54del
XM_005257059.4:c.3330+54del XP_005257116.2:n.3330+54del
NM_000088.4:c.4248+54del MANE Select NP_000079.2:n.4248+54del
Search 100 bp 5'
Search 100 bp 3'