Canonical Allele Identifier: CA2263918053
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1907353446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194171_50194172insAA , CM000679.2:g.50194171_50194172insAA GRCh38
NC_000017.10:g.48271532_48271533insAA , CM000679.1:g.48271532_48271533insAA GRCh37
NC_000017.9:g.45626531_45626532insAA NCBI36
NG_007400.1:g.12468_12469insTT , LRG_1:g.12468_12469insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1626_1627insTT MANE Select ENSP00000225964.6:p.Ser543LeufsTer?
ENST00000225964.9:c.1626_1627insTT ENSP00000225964.5:p.Ser543LeufsTer?
ENST00000463440.1:n.16_17insTT
ENST00000471344.1:n.570_571insTT
NM_000088.3:c.1626_1627insTT , LRG_1t1:c.1626_1627insTT NP_000079.2:p.Ser543LeufsTer?
XM_005257058.3:c.1626_1627insTT XP_005257115.2:p.Ser543LeufsTer?
XM_005257059.3:c.958-1479_958-1478insTT XP_005257116.2:n.958-1479_958-1478insTT
XM_011524341.1:c.1428_1429insTT XP_011522643.1:p.Ser477LeufsTer?
XM_005257058.4:c.1626_1627insTT XP_005257115.2:p.Ser543LeufsTer?
XM_005257059.4:c.958-1479_958-1478insTT XP_005257116.2:n.958-1479_958-1478insTT
NM_000088.4:c.1626_1627insTT MANE Select NP_000079.2:p.Ser543LeufsTer?
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