Canonical Allele Identifier: CA772776115

Gene: COL1A1

Linked Data

• dbSNP Id: rs1458879251
• gnomAD v3: 17-50198611-GAGA-G
• gnomAD v4: 17-50198611-GAGA-G
• MyVariant Identifiers: chr17:g.48275973_48275975del (hg19) ; chr17:g.50198612_50198614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198616_50198618del , CM000679.2:g.50198616_50198618del	GRCh38
NC_000017.10:g.48275977_48275979del , CM000679.1:g.48275977_48275979del	GRCh37
NC_000017.9:g.45630976_45630978del	NCBI36
NG_007400.1:g.8026_8028del , LRG_1:g.8026_8028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-110_472-108del MANE Select	ENSP00000225964.6:n.472-110_472-108del
ENST00000225964.9:c.472-110_472-108del	ENSP00000225964.5:n.472-110_472-108del
ENST00000495677.1:n.89_91del
NM_000088.3:c.472-110_472-108del , LRG_1t1:c.472-110_472-108del	NP_000079.2:n.472-110_472-108del
XM_005257058.3:c.472-110_472-108del	XP_005257115.2:n.472-110_472-108del
XM_005257059.3:c.472-110_472-108del	XP_005257116.2:n.472-110_472-108del
XM_011524341.1:c.472-110_472-108del	XP_011522643.1:n.472-110_472-108del
XM_005257058.4:c.472-110_472-108del	XP_005257115.2:n.472-110_472-108del
XM_005257059.4:c.472-110_472-108del	XP_005257116.2:n.472-110_472-108del
NM_000088.4:c.472-110_472-108del MANE Select	NP_000079.2:n.472-110_472-108del