Canonical Allele Identifier: CA2263920307

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198515_50198517delinsCAA , CM000679.2:g.50198515_50198517delinsCAA	GRCh38
NC_000017.10:g.48275876_48275878delinsCAA , CM000679.1:g.48275876_48275878delinsCAA	GRCh37
NC_000017.9:g.45630875_45630877delinsCAA	NCBI36
NG_007400.1:g.8123_8125delinsTTG , LRG_1:g.8123_8125delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-13_472-11delinsTTG MANE Select	ENSP00000225964.6:n.472-13_472-11delinsTTG
ENST00000225964.9:c.472-13_472-11delinsTTG	ENSP00000225964.5:n.472-13_472-11delinsTTG
ENST00000495677.1:n.186_188delinsTTG
NM_000088.3:c.472-13_472-11delinsTTG , LRG_1t1:c.472-13_472-11delinsTTG	NP_000079.2:n.472-13_472-11delinsTTG
XM_005257058.3:c.472-13_472-11delinsTTG	XP_005257115.2:n.472-13_472-11delinsTTG
XM_005257059.3:c.472-13_472-11delinsTTG	XP_005257116.2:n.472-13_472-11delinsTTG
XM_011524341.1:c.472-13_472-11delinsTTG	XP_011522643.1:n.472-13_472-11delinsTTG
XM_005257058.4:c.472-13_472-11delinsTTG	XP_005257115.2:n.472-13_472-11delinsTTG
XM_005257059.4:c.472-13_472-11delinsTTG	XP_005257116.2:n.472-13_472-11delinsTTG
NM_000088.4:c.472-13_472-11delinsTTG MANE Select	NP_000079.2:n.472-13_472-11delinsTTG