Canonical Allele Identifier: CA2263913622

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906404211

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185445_50185447del , CM000679.2:g.50185445_50185447del	GRCh38
NC_000017.10:g.48262806_48262808del , CM000679.1:g.48262806_48262808del	GRCh37
NC_000017.9:g.45617805_45617807del	NCBI36
NG_007400.1:g.21193_21195del , LRG_1:g.21193_21195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*55_*57del MANE Select	ENSP00000225964.6:n.*55_*57del
ENST00000225964.9:c.*55_*57del	ENSP00000225964.5:n.*55_*57del
NM_000088.3:c.*55_*57del , LRG_1t1:c.*55_*57del	NP_000079.2:n.*55_*57del
XM_005257058.3:c.*55_*57del	XP_005257115.2:n.*55_*57del
XM_005257059.3:c.*55_*57del	XP_005257116.2:n.*55_*57del
XM_011524341.1:c.*55_*57del	XP_011522643.1:n.*55_*57del
XM_005257058.4:c.*55_*57del	XP_005257115.2:n.*55_*57del
XM_005257059.4:c.*55_*57del	XP_005257116.2:n.*55_*57del
NM_000088.4:c.*55_*57del MANE Select	NP_000079.2:n.*55_*57del