Canonical Allele Identifier: CA2638680794
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50198795-A-AT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50198797dup , CM000679.2:g.50198797dup GRCh38
NC_000017.10:g.48276158dup , CM000679.1:g.48276158dup GRCh37
NC_000017.9:g.45631157dup NCBI36
NG_007400.1:g.7844dup , LRG_1:g.7844dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.472-292dup MANE Select ENSP00000225964.6:n.472-292dup
ENST00000225964.9:c.472-292dup ENSP00000225964.5:n.472-292dup
NM_000088.3:c.472-292dup , LRG_1t1:c.472-292dup NP_000079.2:n.472-292dup
XM_005257058.3:c.472-292dup XP_005257115.2:n.472-292dup
XM_005257059.3:c.472-292dup XP_005257116.2:n.472-292dup
XM_011524341.1:c.472-292dup XP_011522643.1:n.472-292dup
XM_005257058.4:c.472-292dup XP_005257115.2:n.472-292dup
XM_005257059.4:c.472-292dup XP_005257116.2:n.472-292dup
NM_000088.4:c.472-292dup MANE Select NP_000079.2:n.472-292dup
Search 100 bp 5'
Search 100 bp 3'