Canonical Allele Identifier: CA2263919008

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195970_50195971delinsTG , CM000679.2:g.50195970_50195971delinsTG	GRCh38
NC_000017.10:g.48273331_48273332delinsTG , CM000679.1:g.48273331_48273332delinsTG	GRCh37
NC_000017.9:g.45628330_45628331delinsTG	NCBI36
NG_007400.1:g.10669_10670delinsCA , LRG_1:g.10669_10670delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1008_1009delinsCA MANE Select	ENSP00000225964.6:p.Pro336=
ENST00000225964.9:c.1008_1009delinsCA	ENSP00000225964.5:p.Pro336=
NM_000088.3:c.1008_1009delinsCA , LRG_1t1:c.1008_1009delinsCA	NP_000079.2:p.Pro336=
XM_005257058.3:c.1008_1009delinsCA	XP_005257115.2:p.Pro336=
XM_005257059.3:c.957+343_957+344delinsCA	XP_005257116.2:n.957+343_957+344delinsCA
XM_011524341.1:c.957+343_957+344delinsCA	XP_011522643.1:n.957+343_957+344delinsCA
XM_005257058.4:c.1008_1009delinsCA	XP_005257115.2:p.Pro336=
XM_005257059.4:c.957+343_957+344delinsCA	XP_005257116.2:n.957+343_957+344delinsCA
NM_000088.4:c.1008_1009delinsCA MANE Select	NP_000079.2:p.Pro336=