Canonical Allele Identifier: CA984451642

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907805545
• gnomAD v3: 17-50198581-GA-G
• gnomAD v4: 17-50198581-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198582del , CM000679.2:g.50198582del	GRCh38
NC_000017.10:g.48275943del , CM000679.1:g.48275943del	GRCh37
NC_000017.9:g.45630942del	NCBI36
NG_007400.1:g.8058del , LRG_1:g.8058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-78del MANE Select	ENSP00000225964.6:n.472-78del
ENST00000225964.9:c.472-78del	ENSP00000225964.5:n.472-78del
ENST00000495677.1:n.121del
NM_000088.3:c.472-78del , LRG_1t1:c.472-78del	NP_000079.2:n.472-78del
XM_005257058.3:c.472-78del	XP_005257115.2:n.472-78del
XM_005257059.3:c.472-78del	XP_005257116.2:n.472-78del
XM_011524341.1:c.472-78del	XP_011522643.1:n.472-78del
XM_005257058.4:c.472-78del	XP_005257115.2:n.472-78del
XM_005257059.4:c.472-78del	XP_005257116.2:n.472-78del
NM_000088.4:c.472-78del MANE Select	NP_000079.2:n.472-78del