Canonical Allele Identifier: CA2695226632

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192999del , CM000679.2:g.50192999del	GRCh38
NC_000017.10:g.48270360del , CM000679.1:g.48270360del	GRCh37
NC_000017.9:g.45625359del	NCBI36
NG_007400.1:g.13641del , LRG_1:g.13641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1816del MANE Select	ENSP00000225964.6:p.Ala606LeufsTer?
ENST00000225964.9:c.1816del	ENSP00000225964.5:p.Ala606LeufsTer?
ENST00000476387.1:n.165del
NM_000088.3:c.1816del , LRG_1t1:c.1816del	NP_000079.2:p.Ala606LeufsTer?
XM_005257058.3:c.1816del	XP_005257115.2:p.Ala606LeufsTer?
XM_005257059.3:c.958-306del	XP_005257116.2:n.958-306del
XM_011524341.1:c.1618del	XP_011522643.1:p.Ala540LeufsTer?
XM_005257058.4:c.1816del	XP_005257115.2:p.Ala606LeufsTer?
XM_005257059.4:c.958-306del	XP_005257116.2:n.958-306del
NM_000088.4:c.1816del MANE Select	NP_000079.2:p.Ala606LeufsTer?