Canonical Allele Identifier: CA2263913813

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906445425

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185719_50185723del , CM000679.2:g.50185719_50185723del	GRCh38
NC_000017.10:g.48263080_48263084del , CM000679.1:g.48263080_48263084del	GRCh37
NC_000017.9:g.45618079_45618083del	NCBI36
NG_007400.1:g.20922_20926del , LRG_1:g.20922_20926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4248+60_4248+64del MANE Select	ENSP00000225964.6:n.4248+60_4248+64del
ENST00000225964.9:c.4248+60_4248+64del	ENSP00000225964.5:n.4248+60_4248+64del
NM_000088.3:c.4248+60_4248+64del , LRG_1t1:c.4248+60_4248+64del	NP_000079.2:n.4248+60_4248+64del
XM_005257058.3:c.3978+60_3978+64del	XP_005257115.2:n.3978+60_3978+64del
XM_005257059.3:c.3330+60_3330+64del	XP_005257116.2:n.3330+60_3330+64del
XM_011524341.1:c.4050+60_4050+64del	XP_011522643.1:n.4050+60_4050+64del
XM_005257058.4:c.3978+60_3978+64del	XP_005257115.2:n.3978+60_3978+64del
XM_005257059.4:c.3330+60_3330+64del	XP_005257116.2:n.3330+60_3330+64del
NM_000088.4:c.4248+60_4248+64del MANE Select	NP_000079.2:n.4248+60_4248+64del