Canonical Allele Identifier: CA2695226641

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194138del , CM000679.2:g.50194138del	GRCh38
NC_000017.10:g.48271499del , CM000679.1:g.48271499del	GRCh37
NC_000017.9:g.45626498del	NCBI36
NG_007400.1:g.12503del , LRG_1:g.12503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1661del MANE Select	ENSP00000225964.6:p.Gly554AlafsTer26
ENST00000225964.9:c.1661del	ENSP00000225964.5:p.Gly554AlafsTer26
ENST00000463440.1:n.51del
ENST00000471344.1:n.605del
NM_000088.3:c.1661del , LRG_1t1:c.1661del	NP_000079.2:p.Gly554AlafsTer26
XM_005257058.3:c.1661del	XP_005257115.2:p.Gly554AlafsTer26
XM_005257059.3:c.958-1444del	XP_005257116.2:n.958-1444del
XM_011524341.1:c.1463del	XP_011522643.1:p.Gly488AlafsTer26
XM_005257058.4:c.1661del	XP_005257115.2:p.Gly554AlafsTer26
XM_005257059.4:c.958-1444del	XP_005257116.2:n.958-1444del
NM_000088.4:c.1661del MANE Select	NP_000079.2:p.Gly554AlafsTer26