Canonical Allele Identifier: CA645569645
Gene: COL1A1 HGNC NCBI

Linked Data

COSMIC: COSM296470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194738_50194739insTA , CM000679.2:g.50194738_50194739insTA GRCh38
NC_000017.10:g.48272099_48272100insTA , CM000679.1:g.48272099_48272100insTA GRCh37
NC_000017.9:g.45627098_45627099insTA NCBI36
NG_007400.1:g.11901_11902insTA , LRG_1:g.11901_11902insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1443_1444insTA MANE Select ENSP00000225964.6:p.Gly482Ter
ENST00000225964.9:c.1443_1444insTA ENSP00000225964.5:p.Gly482Ter
ENST00000471344.1:n.387_388insTA
NM_000088.3:c.1443_1444insTA , LRG_1t1:c.1443_1444insTA NP_000079.2:p.Gly482Ter
XM_005257058.3:c.1443_1444insTA XP_005257115.2:p.Gly482Ter
XM_005257059.3:c.957+1575_957+1576insTA XP_005257116.2:n.957+1575_957+1576insTA
XM_011524341.1:c.1245_1246insTA XP_011522643.1:p.Gly416Ter
XM_005257058.4:c.1443_1444insTA XP_005257115.2:p.Gly482Ter
XM_005257059.4:c.957+1575_957+1576insTA XP_005257116.2:n.957+1575_957+1576insTA
NM_000088.4:c.1443_1444insTA MANE Select NP_000079.2:p.Gly482Ter
Search 100 bp 5'
Search 100 bp 3'