Canonical Allele Identifier: CA2809757431

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196581_50196582insCA , CM000679.2:g.50196581_50196582insCA	GRCh38
NC_000017.10:g.48273942_48273943insCA , CM000679.1:g.48273942_48273943insCA	GRCh37
NC_000017.9:g.45628941_45628942insCA	NCBI36
NG_007400.1:g.10058_10059insTG , LRG_1:g.10058_10059insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+35_858+36insTG MANE Select	ENSP00000225964.6:n.858+35_858+36insTG
ENST00000225964.9:c.858+35_858+36insTG	ENSP00000225964.5:n.858+35_858+36insTG
ENST00000485870.1:n.14_15insTG
ENST00000495677.1:n.585+35_585+36insTG
NM_000088.3:c.858+35_858+36insTG , LRG_1t1:c.858+35_858+36insTG	NP_000079.2:n.858+35_858+36insTG
XM_005257058.3:c.858+35_858+36insTG	XP_005257115.2:n.858+35_858+36insTG
XM_005257059.3:c.858+35_858+36insTG	XP_005257116.2:n.858+35_858+36insTG
XM_011524341.1:c.858+35_858+36insTG	XP_011522643.1:n.858+35_858+36insTG
XM_005257058.4:c.858+35_858+36insTG	XP_005257115.2:n.858+35_858+36insTG
XM_005257059.4:c.858+35_858+36insTG	XP_005257116.2:n.858+35_858+36insTG
NM_000088.4:c.858+35_858+36insTG MANE Select	NP_000079.2:n.858+35_858+36insTG