Canonical Allele Identifier: CA2695226407

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185536_50185540del , CM000679.2:g.50185536_50185540del	GRCh38
NC_000017.10:g.48262897_48262901del , CM000679.1:g.48262897_48262901del	GRCh37
NC_000017.9:g.45617896_45617900del	NCBI36
NG_007400.1:g.21100_21104del , LRG_1:g.21100_21104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4357_4361del MANE Select	ENSP00000225964.6:p.Glu1453ArgfsTer?
ENST00000225964.9:c.4357_4361del	ENSP00000225964.5:p.Glu1453ArgfsTer?
NM_000088.3:c.4357_4361del , LRG_1t1:c.4357_4361del	NP_000079.2:p.Glu1453ArgfsTer?
XM_005257058.3:c.4087_4091del	XP_005257115.2:p.Glu1363ArgfsTer?
XM_005257059.3:c.3439_3443del	XP_005257116.2:p.Glu1147ArgfsTer?
XM_011524341.1:c.4159_4163del	XP_011522643.1:p.Glu1387ArgfsTer?
XM_005257058.4:c.4087_4091del	XP_005257115.2:p.Glu1363ArgfsTer?
XM_005257059.4:c.3439_3443del	XP_005257116.2:p.Glu1147ArgfsTer?
NM_000088.4:c.4357_4361del MANE Select	NP_000079.2:p.Glu1453ArgfsTer?