Canonical Allele Identifier: CA2263918818

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195600_50195601delinsGC , CM000679.2:g.50195600_50195601delinsGC	GRCh38
NC_000017.10:g.48272961_48272962delinsGC , CM000679.1:g.48272961_48272962delinsGC	GRCh37
NC_000017.9:g.45627960_45627961delinsGC	NCBI36
NG_007400.1:g.11039_11040delinsGC , LRG_1:g.11039_11040delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1121_1122delinsGC MANE Select	ENSP00000225964.6:p.Gly374=
ENST00000225964.9:c.1121_1122delinsGC	ENSP00000225964.5:p.Gly374=
ENST00000471344.1:n.65_66delinsGC
NM_000088.3:c.1121_1122delinsGC , LRG_1t1:c.1121_1122delinsGC	NP_000079.2:p.Gly374=
XM_005257058.3:c.1121_1122delinsGC	XP_005257115.2:p.Gly374=
XM_005257059.3:c.957+713_957+714delinsGC	XP_005257116.2:n.957+713_957+714delinsGC
XM_011524341.1:c.958-123_958-122delinsGC	XP_011522643.1:n.958-123_958-122delinsGC
XM_005257058.4:c.1121_1122delinsGC	XP_005257115.2:p.Gly374=
XM_005257059.4:c.957+713_957+714delinsGC	XP_005257116.2:n.957+713_957+714delinsGC
NM_000088.4:c.1121_1122delinsGC MANE Select	NP_000079.2:p.Gly374=