Canonical Allele Identifier: CA2263918261

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194590_50194592delinsCAT , CM000679.2:g.50194590_50194592delinsCAT	GRCh38
NC_000017.10:g.48271951_48271953delinsCAT , CM000679.1:g.48271951_48271953delinsCAT	GRCh37
NC_000017.9:g.45626950_45626952delinsCAT	NCBI36
NG_007400.1:g.12048_12050delinsATG , LRG_1:g.12048_12050delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1496_1498delinsATG MANE Select	ENSP00000225964.6:p.Asp499=
ENST00000225964.9:c.1496_1498delinsATG	ENSP00000225964.5:p.Asp499=
ENST00000471344.1:n.440_442delinsATG
NM_000088.3:c.1496_1498delinsATG , LRG_1t1:c.1496_1498delinsATG	NP_000079.2:p.Asp499=
XM_005257058.3:c.1496_1498delinsATG	XP_005257115.2:p.Asp499=
XM_005257059.3:c.957+1722_957+1724delinsATG	XP_005257116.2:n.957+1722_957+1724delinsATG
XM_011524341.1:c.1298_1300delinsATG	XP_011522643.1:p.Asp433=
XM_005257058.4:c.1496_1498delinsATG	XP_005257115.2:p.Asp499=
XM_005257059.4:c.957+1722_957+1724delinsATG	XP_005257116.2:n.957+1722_957+1724delinsATG
NM_000088.4:c.1496_1498delinsATG MANE Select	NP_000079.2:p.Asp499=