Canonical Allele Identifier: CA2809757335

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192779_50192780insTTG , CM000679.2:g.50192779_50192780insTTG	GRCh38
NC_000017.10:g.48270140_48270141insTTG , CM000679.1:g.48270140_48270141insTTG	GRCh37
NC_000017.9:g.45625139_45625140insTTG	NCBI36
NG_007400.1:g.13860_13861insCAA , LRG_1:g.13860_13861insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+17_1875+18insCAA MANE Select	ENSP00000225964.6:n.1875+17_1875+18insCAA
ENST00000225964.9:c.1875+17_1875+18insCAA	ENSP00000225964.5:n.1875+17_1875+18insCAA
ENST00000476387.1:n.224+17_224+18insCAA
NM_000088.3:c.1875+17_1875+18insCAA , LRG_1t1:c.1875+17_1875+18insCAA	NP_000079.2:n.1875+17_1875+18insCAA
XM_005257058.3:c.1875+17_1875+18insCAA	XP_005257115.2:n.1875+17_1875+18insCAA
XM_005257059.3:c.958-87_958-86insCAA	XP_005257116.2:n.958-87_958-86insCAA
XM_011524341.1:c.1677+17_1677+18insCAA	XP_011522643.1:n.1677+17_1677+18insCAA
XM_005257058.4:c.1875+17_1875+18insCAA	XP_005257115.2:n.1875+17_1875+18insCAA
XM_005257059.4:c.958-87_958-86insCAA	XP_005257116.2:n.958-87_958-86insCAA
NM_000088.4:c.1875+17_1875+18insCAA MANE Select	NP_000079.2:n.1875+17_1875+18insCAA