Canonical Allele Identifier: CA2263918224

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907389377

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194519_50194530del , CM000679.2:g.50194519_50194530del	GRCh38
NC_000017.10:g.48271880_48271891del , CM000679.1:g.48271880_48271891del	GRCh37
NC_000017.9:g.45626879_45626890del	NCBI36
NG_007400.1:g.12111_12122del , LRG_1:g.12111_12122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+44_1515+55del MANE Select	ENSP00000225964.6:n.1515+44_1515+55del
ENST00000225964.9:c.1515+44_1515+55del	ENSP00000225964.5:n.1515+44_1515+55del
ENST00000471344.1:n.459+44_459+55del
NM_000088.3:c.1515+44_1515+55del , LRG_1t1:c.1515+44_1515+55del	NP_000079.2:n.1515+44_1515+55del
XM_005257058.3:c.1515+44_1515+55del	XP_005257115.2:n.1515+44_1515+55del
XM_005257059.3:c.957+1785_957+1796del	XP_005257116.2:n.957+1785_957+1796del
XM_011524341.1:c.1317+44_1317+55del	XP_011522643.1:n.1317+44_1317+55del
XM_005257058.4:c.1515+44_1515+55del	XP_005257115.2:n.1515+44_1515+55del
XM_005257059.4:c.957+1785_957+1796del	XP_005257116.2:n.957+1785_957+1796del
NM_000088.4:c.1515+44_1515+55del MANE Select	NP_000079.2:n.1515+44_1515+55del