Canonical Allele Identifier: CA2263917137

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907226324

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192938_50192940del , CM000679.2:g.50192938_50192940del	GRCh38
NC_000017.10:g.48270299_48270301del , CM000679.1:g.48270299_48270301del	GRCh37
NC_000017.9:g.45625298_45625300del	NCBI36
NG_007400.1:g.13704_13706del , LRG_1:g.13704_13706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+58_1821+60del MANE Select	ENSP00000225964.6:n.1821+58_1821+60del
ENST00000225964.9:c.1821+58_1821+60del	ENSP00000225964.5:n.1821+58_1821+60del
ENST00000476387.1:n.170+58_170+60del
NM_000088.3:c.1821+58_1821+60del , LRG_1t1:c.1821+58_1821+60del	NP_000079.2:n.1821+58_1821+60del
XM_005257058.3:c.1821+58_1821+60del	XP_005257115.2:n.1821+58_1821+60del
XM_005257059.3:c.958-243_958-241del	XP_005257116.2:n.958-243_958-241del
XM_011524341.1:c.1623+58_1623+60del	XP_011522643.1:n.1623+58_1623+60del
XM_005257058.4:c.1821+58_1821+60del	XP_005257115.2:n.1821+58_1821+60del
XM_005257059.4:c.958-243_958-241del	XP_005257116.2:n.958-243_958-241del
NM_000088.4:c.1821+58_1821+60del MANE Select	NP_000079.2:n.1821+58_1821+60del