Canonical Allele Identifier: CA291543066

Gene: COL1A1

Linked Data

• dbSNP Id: rs74315149

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188580_50188585dup , CM000679.2:g.50188580_50188585dup	GRCh38
NC_000017.10:g.48265941_48265946dup , CM000679.1:g.48265941_48265946dup	GRCh37
NC_000017.9:g.45620940_45620945dup	NCBI36
NG_007400.1:g.18056_18061dup , LRG_1:g.18056_18061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3153_3158dup MANE Select	ENSP00000225964.6:p.Ala1053_Pro1054insGlyAla
ENST00000225964.9:c.3153_3158dup	ENSP00000225964.5:p.Ala1053_Pro1054insGlyAla
ENST00000511732.1:n.97_102dup
NM_000088.3:c.3153_3158dup , LRG_1t1:c.3153_3158dup	NP_000079.2:p.Ala1053_Pro1054insGlyAla
XM_005257058.3:c.2883_2888dup	XP_005257115.2:p.Ala963_Pro964insGlyAla
XM_005257059.3:c.2235_2240dup	XP_005257116.2:p.Ala747_Pro748insGlyAla
XM_011524341.1:c.2955_2960dup	XP_011522643.1:p.Ala987_Pro988insGlyAla
XM_005257058.4:c.2883_2888dup	XP_005257115.2:p.Ala963_Pro964insGlyAla
XM_005257059.4:c.2235_2240dup	XP_005257116.2:p.Ala747_Pro748insGlyAla
NM_000088.4:c.3153_3158dup MANE Select	NP_000079.2:p.Ala1053_Pro1054insGlyAla