Canonical Allele Identifier: CA2697560244

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2752631
• ClinVar RCV Id: RCV003516948

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185821_50185957dup , CM000679.2:g.50185821_50185957dup	GRCh38
NC_000017.10:g.48263182_48263318dup , CM000679.1:g.48263182_48263318dup	GRCh37
NC_000017.9:g.45618181_45618317dup	NCBI36
NG_007400.1:g.20684_20820dup , LRG_1:g.20684_20820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4070_4206dup MANE Select	ENSP00000225964.6:p.Asn1403Ter
ENST00000225964.9:c.4070_4206dup	ENSP00000225964.5:p.Asn1403Ter
NM_000088.3:c.4070_4206dup , LRG_1t1:c.4070_4206dup	NP_000079.2:p.Asn1403Ter
XM_005257058.3:c.3800_3936dup	XP_005257115.2:p.Asn1313Ter
XM_005257059.3:c.3152_3288dup	XP_005257116.2:p.Asn1097Ter
XM_011524341.1:c.3872_4008dup	XP_011522643.1:p.Asn1337Ter
XM_005257058.4:c.3800_3936dup	XP_005257115.2:p.Asn1313Ter
XM_005257059.4:c.3152_3288dup	XP_005257116.2:p.Asn1097Ter
NM_000088.4:c.4070_4206dup MANE Select	NP_000079.2:p.Asn1403Ter