Canonical Allele Identifier: CA2695226525
Gene: COL1A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196668dup , CM000679.2:g.50196668dup GRCh38
NC_000017.10:g.48274029dup , CM000679.1:g.48274029dup GRCh37
NC_000017.9:g.45629028dup NCBI36
NG_007400.1:g.9974dup , LRG_1:g.9974dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.809dup MANE Select ENSP00000225964.6:p.Ser271GlnfsTer16
ENST00000225964.9:c.809dup ENSP00000225964.5:p.Ser271GlnfsTer16
ENST00000495677.1:n.536dup
NM_000088.3:c.809dup , LRG_1t1:c.809dup NP_000079.2:p.Ser271GlnfsTer16
XM_005257058.3:c.809dup XP_005257115.2:p.Ser271GlnfsTer16
XM_005257059.3:c.809dup XP_005257116.2:p.Ser271GlnfsTer16
XM_011524341.1:c.809dup XP_011522643.1:p.Ser271GlnfsTer16
XM_005257058.4:c.809dup XP_005257115.2:p.Ser271GlnfsTer16
XM_005257059.4:c.809dup XP_005257116.2:p.Ser271GlnfsTer16
NM_000088.4:c.809dup MANE Select NP_000079.2:p.Ser271GlnfsTer16
Search 100 bp 5'
Search 100 bp 3'