Canonical Allele Identifier: CA2638710350

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194738-C-CCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194738_50194739insCAAA , CM000679.2:g.50194738_50194739insCAAA	GRCh38
NC_000017.10:g.48272099_48272100insCAAA , CM000679.1:g.48272099_48272100insCAAA	GRCh37
NC_000017.9:g.45627098_45627099insCAAA	NCBI36
NG_007400.1:g.11901_11902insTTTG , LRG_1:g.11901_11902insTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1443_1444insTTTG MANE Select	ENSP00000225964.6:p.Gly482PhefsTer12
ENST00000225964.9:c.1443_1444insTTTG	ENSP00000225964.5:p.Gly482PhefsTer12
ENST00000471344.1:n.387_388insTTTG
NM_000088.3:c.1443_1444insTTTG , LRG_1t1:c.1443_1444insTTTG	NP_000079.2:p.Gly482PhefsTer12
XM_005257058.3:c.1443_1444insTTTG	XP_005257115.2:p.Gly482PhefsTer12
XM_005257059.3:c.957+1575_957+1576insTTTG	XP_005257116.2:n.957+1575_957+1576insTTTG
XM_011524341.1:c.1245_1246insTTTG	XP_011522643.1:p.Gly416PhefsTer12
XM_005257058.4:c.1443_1444insTTTG	XP_005257115.2:p.Gly482PhefsTer12
XM_005257059.4:c.957+1575_957+1576insTTTG	XP_005257116.2:n.957+1575_957+1576insTTTG
NM_000088.4:c.1443_1444insTTTG MANE Select	NP_000079.2:p.Gly482PhefsTer12