Canonical Allele Identifier: CA2809757429

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196578_50196579insTTCC , CM000679.2:g.50196578_50196579insTTCC	GRCh38
NC_000017.10:g.48273939_48273940insTTCC , CM000679.1:g.48273939_48273940insTTCC	GRCh37
NC_000017.9:g.45628938_45628939insTTCC	NCBI36
NG_007400.1:g.10061_10062insGGAA , LRG_1:g.10061_10062insGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+38_858+39insGGAA MANE Select	ENSP00000225964.6:n.858+38_858+39insGGAA
ENST00000225964.9:c.858+38_858+39insGGAA	ENSP00000225964.5:n.858+38_858+39insGGAA
ENST00000485870.1:n.17_18insGGAA
ENST00000495677.1:n.585+38_585+39insGGAA
NM_000088.3:c.858+38_858+39insGGAA , LRG_1t1:c.858+38_858+39insGGAA	NP_000079.2:n.858+38_858+39insGGAA
XM_005257058.3:c.858+38_858+39insGGAA	XP_005257115.2:n.858+38_858+39insGGAA
XM_005257059.3:c.858+38_858+39insGGAA	XP_005257116.2:n.858+38_858+39insGGAA
XM_011524341.1:c.858+38_858+39insGGAA	XP_011522643.1:n.858+38_858+39insGGAA
XM_005257058.4:c.858+38_858+39insGGAA	XP_005257115.2:n.858+38_858+39insGGAA
XM_005257059.4:c.858+38_858+39insGGAA	XP_005257116.2:n.858+38_858+39insGGAA
NM_000088.4:c.858+38_858+39insGGAA MANE Select	NP_000079.2:n.858+38_858+39insGGAA