Canonical Allele Identifier: CA2809757385

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193154_50193155insCACCAAACACACCC , CM000679.2:g.50193154_50193155insCACCAAACACACCC	GRCh38
NC_000017.10:g.48270515_48270516insCACCAAACACACCC , CM000679.1:g.48270515_48270516insCACCAAACACACCC	GRCh37
NC_000017.9:g.45625514_45625515insCACCAAACACACCC	NCBI36
NG_007400.1:g.13485_13486insGGGTGTGTTTGGTG , LRG_1:g.13485_13486insGGGTGTGTTTGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-108_1768-107insGGGTGTGTTTGGTG MANE Select	ENSP00000225964.6:n.1768-108_1768-107insGGGTGTGTTTGGTG
ENST00000225964.9:c.1768-108_1768-107insGGGTGTGTTTGGTG	ENSP00000225964.5:n.1768-108_1768-107insGGGTGTGTTTGGTG
ENST00000476387.1:n.117-108_117-107insGGGTGTGTTTGGTG
NM_000088.3:c.1768-108_1768-107insGGGTGTGTTTGGTG , LRG_1t1:c.1768-108_1768-107insGGGTGTGTTTGGTG	NP_000079.2:n.1768-108_1768-107insGGGTGTGTTTGGTG
XM_005257058.3:c.1768-108_1768-107insGGGTGTGTTTGGTG	XP_005257115.2:n.1768-108_1768-107insGGGTGTGTTTGGTG
XM_005257059.3:c.958-462_958-461insGGGTGTGTTTGGTG	XP_005257116.2:n.958-462_958-461insGGGTGTGTTTGGTG
XM_011524341.1:c.1570-108_1570-107insGGGTGTGTTTGGTG	XP_011522643.1:n.1570-108_1570-107insGGGTGTGTTTGGTG
XM_005257058.4:c.1768-108_1768-107insGGGTGTGTTTGGTG	XP_005257115.2:n.1768-108_1768-107insGGGTGTGTTTGGTG
XM_005257059.4:c.958-462_958-461insGGGTGTGTTTGGTG	XP_005257116.2:n.958-462_958-461insGGGTGTGTTTGGTG
NM_000088.4:c.1768-108_1768-107insGGGTGTGTTTGGTG MANE Select	NP_000079.2:n.1768-108_1768-107insGGGTGTGTTTGGTG