Canonical Allele Identifier: CA919856574

Gene: COL1A1

Linked Data

• dbSNP Id: rs1555572268

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188592del , CM000679.2:g.50188592del	GRCh38
NC_000017.10:g.48265953del , CM000679.1:g.48265953del	GRCh37
NC_000017.9:g.45620952del	NCBI36
NG_007400.1:g.18049del , LRG_1:g.18049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3146del MANE Select	ENSP00000225964.6:p.Gly1049ValfsTer?
ENST00000225964.9:c.3146del	ENSP00000225964.5:p.Gly1049ValfsTer?
ENST00000511732.1:n.90del
NM_000088.3:c.3146del , LRG_1t1:c.3146del	NP_000079.2:p.Gly1049ValfsTer?
XM_005257058.3:c.2876del	XP_005257115.2:p.Gly959ValfsTer?
XM_005257059.3:c.2228del	XP_005257116.2:p.Gly743ValfsTer?
XM_011524341.1:c.2948del	XP_011522643.1:p.Gly983ValfsTer?
XM_005257058.4:c.2876del	XP_005257115.2:p.Gly959ValfsTer?
XM_005257059.4:c.2228del	XP_005257116.2:p.Gly743ValfsTer?
NM_000088.4:c.3146del MANE Select	NP_000079.2:p.Gly1049ValfsTer?