Canonical Allele Identifier: CA2263918015

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194111_50194112delinsCA , CM000679.2:g.50194111_50194112delinsCA	GRCh38
NC_000017.10:g.48271472_48271473delinsCA , CM000679.1:g.48271472_48271473delinsCA	GRCh37
NC_000017.9:g.45626471_45626472delinsCA	NCBI36
NG_007400.1:g.12528_12529delinsTG , LRG_1:g.12528_12529delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1668+18_1668+19delinsTG MANE Select	ENSP00000225964.6:n.1668+18_1668+19delinsTG
ENST00000225964.9:c.1668+18_1668+19delinsTG	ENSP00000225964.5:n.1668+18_1668+19delinsTG
ENST00000463440.1:n.58+18_58+19delinsTG
ENST00000471344.1:n.630_631delinsTG
NM_000088.3:c.1668+18_1668+19delinsTG , LRG_1t1:c.1668+18_1668+19delinsTG	NP_000079.2:n.1668+18_1668+19delinsTG
XM_005257058.3:c.1668+18_1668+19delinsTG	XP_005257115.2:n.1668+18_1668+19delinsTG
XM_005257059.3:c.958-1419_958-1418delinsTG	XP_005257116.2:n.958-1419_958-1418delinsTG
XM_011524341.1:c.1470+18_1470+19delinsTG	XP_011522643.1:n.1470+18_1470+19delinsTG
XM_005257058.4:c.1668+18_1668+19delinsTG	XP_005257115.2:n.1668+18_1668+19delinsTG
XM_005257059.4:c.958-1419_958-1418delinsTG	XP_005257116.2:n.958-1419_958-1418delinsTG
NM_000088.4:c.1668+18_1668+19delinsTG MANE Select	NP_000079.2:n.1668+18_1668+19delinsTG