Canonical Allele Identifier: CA656384154

Gene: COL1A1

Linked Data

• COSMIC: COSN22120478

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185358_50185359insA , CM000679.2:g.50185358_50185359insA	GRCh38
NC_000017.10:g.48262719_48262720insA , CM000679.1:g.48262719_48262720insA	GRCh37
NC_000017.9:g.45617718_45617719insA	NCBI36
NG_007400.1:g.21281_21282insT , LRG_1:g.21281_21282insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*143_*144insT MANE Select	ENSP00000225964.6:n.*143_*144insT
ENST00000225964.9:c.*143_*144insT	ENSP00000225964.5:n.*143_*144insT
NM_000088.3:c.*143_*144insT , LRG_1t1:c.*143_*144insT	NP_000079.2:n.*143_*144insT
XM_005257058.3:c.*143_*144insT	XP_005257115.2:n.*143_*144insT
XM_005257059.3:c.*143_*144insT	XP_005257116.2:n.*143_*144insT
XM_011524341.1:c.*143_*144insT	XP_011522643.1:n.*143_*144insT
XM_005257058.4:c.*143_*144insT	XP_005257115.2:n.*143_*144insT
XM_005257059.4:c.*143_*144insT	XP_005257116.2:n.*143_*144insT
NM_000088.4:c.*143_*144insT MANE Select	NP_000079.2:n.*143_*144insT