Canonical Allele Identifier: CA2809757432

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196583_50196584insC , CM000679.2:g.50196583_50196584insC	GRCh38
NC_000017.10:g.48273944_48273945insC , CM000679.1:g.48273944_48273945insC	GRCh37
NC_000017.9:g.45628943_45628944insC	NCBI36
NG_007400.1:g.10056_10057insG , LRG_1:g.10056_10057insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+33_858+34insG MANE Select	ENSP00000225964.6:n.858+33_858+34insG
ENST00000225964.9:c.858+33_858+34insG	ENSP00000225964.5:n.858+33_858+34insG
ENST00000485870.1:n.12_13insG
ENST00000495677.1:n.585+33_585+34insG
NM_000088.3:c.858+33_858+34insG , LRG_1t1:c.858+33_858+34insG	NP_000079.2:n.858+33_858+34insG
XM_005257058.3:c.858+33_858+34insG	XP_005257115.2:n.858+33_858+34insG
XM_005257059.3:c.858+33_858+34insG	XP_005257116.2:n.858+33_858+34insG
XM_011524341.1:c.858+33_858+34insG	XP_011522643.1:n.858+33_858+34insG
XM_005257058.4:c.858+33_858+34insG	XP_005257115.2:n.858+33_858+34insG
XM_005257059.4:c.858+33_858+34insG	XP_005257116.2:n.858+33_858+34insG
NM_000088.4:c.858+33_858+34insG MANE Select	NP_000079.2:n.858+33_858+34insG