Canonical Allele Identifier: CA2263918301

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194655_50194657delinsCCG , CM000679.2:g.50194655_50194657delinsCCG	GRCh38
NC_000017.10:g.48272016_48272018delinsCCG , CM000679.1:g.48272016_48272018delinsCCG	GRCh37
NC_000017.9:g.45627015_45627017delinsCCG	NCBI36
NG_007400.1:g.11983_11985delinsCGG , LRG_1:g.11983_11985delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1462-31_1462-29delinsCGG MANE Select	ENSP00000225964.6:n.1462-31_1462-29delinsCGG
ENST00000225964.9:c.1462-31_1462-29delinsCGG	ENSP00000225964.5:n.1462-31_1462-29delinsCGG
ENST00000471344.1:n.406-31_406-29delinsCGG
NM_000088.3:c.1462-31_1462-29delinsCGG , LRG_1t1:c.1462-31_1462-29delinsCGG	NP_000079.2:n.1462-31_1462-29delinsCGG
XM_005257058.3:c.1462-31_1462-29delinsCGG	XP_005257115.2:n.1462-31_1462-29delinsCGG
XM_005257059.3:c.957+1657_957+1659delinsCGG	XP_005257116.2:n.957+1657_957+1659delinsCGG
XM_011524341.1:c.1264-31_1264-29delinsCGG	XP_011522643.1:n.1264-31_1264-29delinsCGG
XM_005257058.4:c.1462-31_1462-29delinsCGG	XP_005257115.2:n.1462-31_1462-29delinsCGG
XM_005257059.4:c.957+1657_957+1659delinsCGG	XP_005257116.2:n.957+1657_957+1659delinsCGG
NM_000088.4:c.1462-31_1462-29delinsCGG MANE Select	NP_000079.2:n.1462-31_1462-29delinsCGG