Canonical Allele Identifier: CA2638710351

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194741-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194742del , CM000679.2:g.50194742del	GRCh38
NC_000017.10:g.48272103del , CM000679.1:g.48272103del	GRCh37
NC_000017.9:g.45627102del	NCBI36
NG_007400.1:g.11898del , LRG_1:g.11898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1440del MANE Select	ENSP00000225964.6:p.Gly482AspfsTer?
ENST00000225964.9:c.1440del	ENSP00000225964.5:p.Gly482AspfsTer?
ENST00000471344.1:n.384del
NM_000088.3:c.1440del , LRG_1t1:c.1440del	NP_000079.2:p.Gly482AspfsTer?
XM_005257058.3:c.1440del	XP_005257115.2:p.Gly482AspfsTer?
XM_005257059.3:c.957+1572del	XP_005257116.2:n.957+1572del
XM_011524341.1:c.1242del	XP_011522643.1:p.Gly416AspfsTer?
XM_005257058.4:c.1440del	XP_005257115.2:p.Gly482AspfsTer?
XM_005257059.4:c.957+1572del	XP_005257116.2:n.957+1572del
NM_000088.4:c.1440del MANE Select	NP_000079.2:p.Gly482AspfsTer?