Canonical Allele Identifier: CA2695226634

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193029del , CM000679.2:g.50193029del	GRCh38
NC_000017.10:g.48270390del , CM000679.1:g.48270390del	GRCh37
NC_000017.9:g.45625389del	NCBI36
NG_007400.1:g.13612del , LRG_1:g.13612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1787del MANE Select	ENSP00000225964.6:p.Gly596GlufsTer?
ENST00000225964.9:c.1787del	ENSP00000225964.5:p.Gly596GlufsTer?
ENST00000476387.1:n.136del
NM_000088.3:c.1787del , LRG_1t1:c.1787del	NP_000079.2:p.Gly596GlufsTer?
XM_005257058.3:c.1787del	XP_005257115.2:p.Gly596GlufsTer?
XM_005257059.3:c.958-335del	XP_005257116.2:n.958-335del
XM_011524341.1:c.1589del	XP_011522643.1:p.Gly530GlufsTer?
XM_005257058.4:c.1787del	XP_005257115.2:p.Gly596GlufsTer?
XM_005257059.4:c.958-335del	XP_005257116.2:n.958-335del
NM_000088.4:c.1787del MANE Select	NP_000079.2:p.Gly596GlufsTer?