Canonical Allele Identifier: CA2638676759
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50196165-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196165_50196166insT , CM000679.2:g.50196165_50196166insT GRCh38
NC_000017.10:g.48273526_48273527insT , CM000679.1:g.48273526_48273527insT GRCh37
NC_000017.9:g.45628525_45628526insT NCBI36
NG_007400.1:g.10474_10475insA , LRG_1:g.10474_10475insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.991_992insA MANE Select ENSP00000225964.6:p.Ala331AspfsTer22
ENST00000225964.9:c.991_992insA ENSP00000225964.5:p.Ala331AspfsTer22
ENST00000485870.1:n.316_317insA
NM_000088.3:c.991_992insA , LRG_1t1:c.991_992insA NP_000079.2:p.Ala331AspfsTer22
XM_005257058.3:c.991_992insA XP_005257115.2:p.Ala331AspfsTer22
XM_005257059.3:c.957+148_957+149insA XP_005257116.2:n.957+148_957+149insA
XM_011524341.1:c.957+148_957+149insA XP_011522643.1:n.957+148_957+149insA
XM_005257058.4:c.991_992insA XP_005257115.2:p.Ala331AspfsTer22
XM_005257059.4:c.957+148_957+149insA XP_005257116.2:n.957+148_957+149insA
NM_000088.4:c.991_992insA MANE Select NP_000079.2:p.Ala331AspfsTer22
Search 100 bp 5'
Search 100 bp 3'