Canonical Allele Identifier: CA2263920620

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199277_50199278delinsAA , CM000679.2:g.50199277_50199278delinsAA	GRCh38
NC_000017.10:g.48276638_48276639delinsAA , CM000679.1:g.48276638_48276639delinsAA	GRCh37
NC_000017.9:g.45631637_45631638delinsAA	NCBI36
NG_007400.1:g.7362_7363delinsTT , LRG_1:g.7362_7363delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.419_420delinsTT MANE Select	ENSP00000225964.6:p.Leu140=
ENST00000225964.9:c.419_420delinsTT	ENSP00000225964.5:p.Leu140=
NM_000088.3:c.419_420delinsTT , LRG_1t1:c.419_420delinsTT	NP_000079.2:p.Leu140=
XM_005257058.3:c.419_420delinsTT	XP_005257115.2:p.Leu140=
XM_005257059.3:c.419_420delinsTT	XP_005257116.2:p.Leu140=
XM_011524341.1:c.419_420delinsTT	XP_011522643.1:p.Leu140=
XM_005257058.4:c.419_420delinsTT	XP_005257115.2:p.Leu140=
XM_005257059.4:c.419_420delinsTT	XP_005257116.2:p.Leu140=
NM_000088.4:c.419_420delinsTT MANE Select	NP_000079.2:p.Leu140=