Canonical Allele Identifier: CA984452240

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906426616
• gnomAD v3: 17-50185578-A-ATGATGGGCAGGC
• gnomAD v4: 17-50185578-A-ATGATGGGCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185579_50185590dup , CM000679.2:g.50185579_50185590dup	GRCh38
NC_000017.10:g.48262940_48262951dup , CM000679.1:g.48262940_48262951dup	GRCh37
NC_000017.9:g.45617939_45617950dup	NCBI36
NG_007400.1:g.21050_21061dup , LRG_1:g.21050_21061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4307_4318dup MANE Select	ENSP00000225964.6:p.Ile1439_Ile1440insSerLeuProIle
ENST00000225964.9:c.4307_4318dup	ENSP00000225964.5:p.Ile1439_Ile1440insSerLeuProIle
NM_000088.3:c.4307_4318dup , LRG_1t1:c.4307_4318dup	NP_000079.2:p.Ile1439_Ile1440insSerLeuProIle
XM_005257058.3:c.4037_4048dup	XP_005257115.2:p.Ile1349_Ile1350insSerLeuProIle
XM_005257059.3:c.3389_3400dup	XP_005257116.2:p.Ile1133_Ile1134insSerLeuProIle
XM_011524341.1:c.4109_4120dup	XP_011522643.1:p.Ile1373_Ile1374insSerLeuProIle
XM_005257058.4:c.4037_4048dup	XP_005257115.2:p.Ile1349_Ile1350insSerLeuProIle
XM_005257059.4:c.3389_3400dup	XP_005257116.2:p.Ile1133_Ile1134insSerLeuProIle
NM_000088.4:c.4307_4318dup MANE Select	NP_000079.2:p.Ile1439_Ile1440insSerLeuProIle