Canonical Allele Identifier: CA2263917247

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193002_50193003delinsCA , CM000679.2:g.50193002_50193003delinsCA	GRCh38
NC_000017.10:g.48270363_48270364delinsCA , CM000679.1:g.48270363_48270364delinsCA	GRCh37
NC_000017.9:g.45625362_45625363delinsCA	NCBI36
NG_007400.1:g.13637_13638delinsTG , LRG_1:g.13637_13638delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1812_1813delinsTG MANE Select	ENSP00000225964.6:p.Pro604=
ENST00000225964.9:c.1812_1813delinsTG	ENSP00000225964.5:p.Pro604=
ENST00000476387.1:n.161_162delinsTG
NM_000088.3:c.1812_1813delinsTG , LRG_1t1:c.1812_1813delinsTG	NP_000079.2:p.Pro604=
XM_005257058.3:c.1812_1813delinsTG	XP_005257115.2:p.Pro604=
XM_005257059.3:c.958-310_958-309delinsTG	XP_005257116.2:n.958-310_958-309delinsTG
XM_011524341.1:c.1614_1615delinsTG	XP_011522643.1:p.Pro538=
XM_005257058.4:c.1812_1813delinsTG	XP_005257115.2:p.Pro604=
XM_005257059.4:c.958-310_958-309delinsTG	XP_005257116.2:n.958-310_958-309delinsTG
NM_000088.4:c.1812_1813delinsTG MANE Select	NP_000079.2:p.Pro604=