Canonical Allele Identifier: CA2595039657

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907805889
• gnomAD v3: 17-50198582-ACAT-A
• gnomAD v4: 17-50198582-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198586_50198588del , CM000679.2:g.50198586_50198588del	GRCh38
NC_000017.10:g.48275947_48275949del , CM000679.1:g.48275947_48275949del	GRCh37
NC_000017.9:g.45630946_45630948del	NCBI36
NG_007400.1:g.8055_8057del , LRG_1:g.8055_8057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-81_472-79del MANE Select	ENSP00000225964.6:n.472-81_472-79del
ENST00000225964.9:c.472-81_472-79del	ENSP00000225964.5:n.472-81_472-79del
ENST00000495677.1:n.118_120del
NM_000088.3:c.472-81_472-79del , LRG_1t1:c.472-81_472-79del	NP_000079.2:n.472-81_472-79del
XM_005257058.3:c.472-81_472-79del	XP_005257115.2:n.472-81_472-79del
XM_005257059.3:c.472-81_472-79del	XP_005257116.2:n.472-81_472-79del
XM_011524341.1:c.472-81_472-79del	XP_011522643.1:n.472-81_472-79del
XM_005257058.4:c.472-81_472-79del	XP_005257115.2:n.472-81_472-79del
XM_005257059.4:c.472-81_472-79del	XP_005257116.2:n.472-81_472-79del
NM_000088.4:c.472-81_472-79del MANE Select	NP_000079.2:n.472-81_472-79del