Canonical Allele Identifier: CA626486245

Gene: COL1A1

Linked Data

• gnomAD v2: 17-48276382-AGTTC-A
• gnomAD v3: 17-50199021-AGTTC-A
• gnomAD v4: 17-50199021-AGTTC-A
• MyVariant Identifiers: chr17:g.48276383_48276386del (hg19) ; chr17:g.50199022_50199025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199022_50199025del , CM000679.2:g.50199022_50199025del	GRCh38
NC_000017.10:g.48276383_48276386del , CM000679.1:g.48276383_48276386del	GRCh37
NC_000017.9:g.45631382_45631385del	NCBI36
NG_007400.1:g.7615_7618del , LRG_1:g.7615_7618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+201_471+204del MANE Select	ENSP00000225964.6:n.471+201_471+204del
ENST00000225964.9:c.471+201_471+204del	ENSP00000225964.5:n.471+201_471+204del
NM_000088.3:c.471+201_471+204del , LRG_1t1:c.471+201_471+204del	NP_000079.2:n.471+201_471+204del
XM_005257058.3:c.471+201_471+204del	XP_005257115.2:n.471+201_471+204del
XM_005257059.3:c.471+201_471+204del	XP_005257116.2:n.471+201_471+204del
XM_011524341.1:c.471+201_471+204del	XP_011522643.1:n.471+201_471+204del
XM_005257058.4:c.471+201_471+204del	XP_005257115.2:n.471+201_471+204del
XM_005257059.4:c.471+201_471+204del	XP_005257116.2:n.471+201_471+204del
NM_000088.4:c.471+201_471+204del MANE Select	NP_000079.2:n.471+201_471+204del