Canonical Allele Identifier: CA2809757384

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193152_50193153insCCAC , CM000679.2:g.50193152_50193153insCCAC	GRCh38
NC_000017.10:g.48270513_48270514insCCAC , CM000679.1:g.48270513_48270514insCCAC	GRCh37
NC_000017.9:g.45625512_45625513insCCAC	NCBI36
NG_007400.1:g.13488_13489insTGGG , LRG_1:g.13488_13489insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-105_1768-104insTGGG MANE Select	ENSP00000225964.6:n.1768-105_1768-104insTGGG
ENST00000225964.9:c.1768-105_1768-104insTGGG	ENSP00000225964.5:n.1768-105_1768-104insTGGG
ENST00000476387.1:n.117-105_117-104insTGGG
NM_000088.3:c.1768-105_1768-104insTGGG , LRG_1t1:c.1768-105_1768-104insTGGG	NP_000079.2:n.1768-105_1768-104insTGGG
XM_005257058.3:c.1768-105_1768-104insTGGG	XP_005257115.2:n.1768-105_1768-104insTGGG
XM_005257059.3:c.958-459_958-458insTGGG	XP_005257116.2:n.958-459_958-458insTGGG
XM_011524341.1:c.1570-105_1570-104insTGGG	XP_011522643.1:n.1570-105_1570-104insTGGG
XM_005257058.4:c.1768-105_1768-104insTGGG	XP_005257115.2:n.1768-105_1768-104insTGGG
XM_005257059.4:c.958-459_958-458insTGGG	XP_005257116.2:n.958-459_958-458insTGGG
NM_000088.4:c.1768-105_1768-104insTGGG MANE Select	NP_000079.2:n.1768-105_1768-104insTGGG