Canonical Allele Identifier: CA1139665685

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186687del , CM000679.2:g.50186687del	GRCh38
NC_000017.10:g.48264048del , CM000679.1:g.48264048del	GRCh37
NC_000017.9:g.45619047del	NCBI36
NG_007400.1:g.19955del , LRG_1:g.19955del

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3769del MANE Select	NP_000079.2:p.Arg1257AlafsTer?
ENST00000225964.10:c.3769del MANE Select	ENSP00000225964.6:p.Arg1257AlafsTer?
NM_000088.3:c.3769del , LRG_1t1:c.3769del	NP_000079.2:p.Arg1257AlafsTer?
ENST00000225964.9:c.3769del	ENSP00000225964.5:p.Arg1257AlafsTer?
ENST00000510710.3:n.438del
XM_005257058.3:c.3499del	XP_005257115.2:p.Arg1167AlafsTer?
XM_005257058.4:c.3499del	XP_005257115.2:p.Arg1167AlafsTer?
XM_005257059.3:c.2851del	XP_005257116.2:p.Arg951AlafsTer?
XM_005257059.4:c.2851del	XP_005257116.2:p.Arg951AlafsTer?
XM_011524341.1:c.3571del	XP_011522643.1:p.Arg1191AlafsTer?