Canonical Allele Identifier: CA2695226677

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195928del , CM000679.2:g.50195928del	GRCh38
NC_000017.10:g.48273289del , CM000679.1:g.48273289del	GRCh37
NC_000017.9:g.45628288del	NCBI36
NG_007400.1:g.10712del , LRG_1:g.10712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1051del MANE Select	ENSP00000225964.6:p.Ala351LeufsTer?
ENST00000225964.9:c.1051del	ENSP00000225964.5:p.Ala351LeufsTer?
NM_000088.3:c.1051del , LRG_1t1:c.1051del	NP_000079.2:p.Ala351LeufsTer?
XM_005257058.3:c.1051del	XP_005257115.2:p.Ala351LeufsTer?
XM_005257059.3:c.957+386del	XP_005257116.2:n.957+386del
XM_011524341.1:c.957+386del	XP_011522643.1:n.957+386del
XM_005257058.4:c.1051del	XP_005257115.2:p.Ala351LeufsTer?
XM_005257059.4:c.957+386del	XP_005257116.2:n.957+386del
NM_000088.4:c.1051del MANE Select	NP_000079.2:p.Ala351LeufsTer?