Canonical Allele Identifier: CA2263918354

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194729_50194730delinsCA , CM000679.2:g.50194729_50194730delinsCA	GRCh38
NC_000017.10:g.48272090_48272091delinsCA , CM000679.1:g.48272090_48272091delinsCA	GRCh37
NC_000017.9:g.45627089_45627090delinsCA	NCBI36
NG_007400.1:g.11910_11911delinsTG , LRG_1:g.11910_11911delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1452_1453delinsTG MANE Select	ENSP00000225964.6:p.Pro484=
ENST00000225964.9:c.1452_1453delinsTG	ENSP00000225964.5:p.Pro484=
ENST00000471344.1:n.396_397delinsTG
NM_000088.3:c.1452_1453delinsTG , LRG_1t1:c.1452_1453delinsTG	NP_000079.2:p.Pro484=
XM_005257058.3:c.1452_1453delinsTG	XP_005257115.2:p.Pro484=
XM_005257059.3:c.957+1584_957+1585delinsTG	XP_005257116.2:n.957+1584_957+1585delinsTG
XM_011524341.1:c.1254_1255delinsTG	XP_011522643.1:p.Pro418=
XM_005257058.4:c.1452_1453delinsTG	XP_005257115.2:p.Pro484=
XM_005257059.4:c.957+1584_957+1585delinsTG	XP_005257116.2:n.957+1584_957+1585delinsTG
NM_000088.4:c.1452_1453delinsTG MANE Select	NP_000079.2:p.Pro484=