Canonical Allele Identifier: CA2638675948
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50195862-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195865del , CM000679.2:g.50195865del GRCh38
NC_000017.10:g.48273226del , CM000679.1:g.48273226del GRCh37
NC_000017.9:g.45628225del NCBI36
NG_007400.1:g.10777del , LRG_1:g.10777del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1056+60del MANE Select ENSP00000225964.6:n.1056+60del
ENST00000225964.9:c.1056+60del ENSP00000225964.5:n.1056+60del
NM_000088.3:c.1056+60del , LRG_1t1:c.1056+60del NP_000079.2:n.1056+60del
XM_005257058.3:c.1056+60del XP_005257115.2:n.1056+60del
XM_005257059.3:c.957+451del XP_005257116.2:n.957+451del
XM_011524341.1:c.958-385del XP_011522643.1:n.958-385del
XM_005257058.4:c.1056+60del XP_005257115.2:n.1056+60del
XM_005257059.4:c.957+451del XP_005257116.2:n.957+451del
NM_000088.4:c.1056+60del MANE Select NP_000079.2:n.1056+60del
Search 100 bp 5'
Search 100 bp 3'