Canonical Allele Identifier: CA2695226653

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194796del , CM000679.2:g.50194796del	GRCh38
NC_000017.10:g.48272157del , CM000679.1:g.48272157del	GRCh37
NC_000017.9:g.45627156del	NCBI36
NG_007400.1:g.11844del , LRG_1:g.11844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1386del MANE Select	ENSP00000225964.6:p.Ala463LeufsTer?
ENST00000225964.9:c.1386del	ENSP00000225964.5:p.Ala463LeufsTer?
ENST00000471344.1:n.330del
NM_000088.3:c.1386del , LRG_1t1:c.1386del	NP_000079.2:p.Ala463LeufsTer?
XM_005257058.3:c.1386del	XP_005257115.2:p.Ala463LeufsTer?
XM_005257059.3:c.957+1518del	XP_005257116.2:n.957+1518del
XM_011524341.1:c.1188del	XP_011522643.1:p.Ala397LeufsTer?
XM_005257058.4:c.1386del	XP_005257115.2:p.Ala463LeufsTer?
XM_005257059.4:c.957+1518del	XP_005257116.2:n.957+1518del
NM_000088.4:c.1386del MANE Select	NP_000079.2:p.Ala463LeufsTer?