Canonical Allele Identifier: CA500851057

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48273028_48273029insTA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195667_50195668insTA , CM000679.2:g.50195667_50195668insTA	GRCh38
NC_000017.10:g.48273028_48273029insTA , CM000679.1:g.48273028_48273029insTA	GRCh37
NC_000017.9:g.45628027_45628028insTA	NCBI36
NG_007400.1:g.10972_10973insTA , LRG_1:g.10972_10973insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1057-3_1057-2insTA MANE Select	ENSP00000225964.6:n.1057-3_1057-2insTA
ENST00000225964.9:c.1057-3_1057-2insTA	ENSP00000225964.5:n.1057-3_1057-2insTA
NM_000088.3:c.1057-3_1057-2insTA , LRG_1t1:c.1057-3_1057-2insTA	NP_000079.2:n.1057-3_1057-2insTA
XM_005257058.3:c.1057-3_1057-2insTA	XP_005257115.2:n.1057-3_1057-2insTA
XM_005257059.3:c.957+646_957+647insTA	XP_005257116.2:n.957+646_957+647insTA
XM_011524341.1:c.958-190_958-189insTA	XP_011522643.1:n.958-190_958-189insTA
XM_005257058.4:c.1057-3_1057-2insTA	XP_005257115.2:n.1057-3_1057-2insTA
XM_005257059.4:c.957+646_957+647insTA	XP_005257116.2:n.957+646_957+647insTA
NM_000088.4:c.1057-3_1057-2insTA MANE Select	NP_000079.2:n.1057-3_1057-2insTA