Canonical Allele Identifier: CA2263913621

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185444_50185447delinsTCCG , CM000679.2:g.50185444_50185447delinsTCCG	GRCh38
NC_000017.10:g.48262805_48262808delinsTCCG , CM000679.1:g.48262805_48262808delinsTCCG	GRCh37
NC_000017.9:g.45617804_45617807delinsTCCG	NCBI36
NG_007400.1:g.21193_21196delinsCGGA , LRG_1:g.21193_21196delinsCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*55_*58delinsCGGA MANE Select	ENSP00000225964.6:n.*55_*58delinsCGGA
ENST00000225964.9:c.*55_*58delinsCGGA	ENSP00000225964.5:n.*55_*58delinsCGGA
NM_000088.3:c.*55_*58delinsCGGA , LRG_1t1:c.*55_*58delinsCGGA	NP_000079.2:n.*55_*58delinsCGGA
XM_005257058.3:c.*55_*58delinsCGGA	XP_005257115.2:n.*55_*58delinsCGGA
XM_005257059.3:c.*55_*58delinsCGGA	XP_005257116.2:n.*55_*58delinsCGGA
XM_011524341.1:c.*55_*58delinsCGGA	XP_011522643.1:n.*55_*58delinsCGGA
XM_005257058.4:c.*55_*58delinsCGGA	XP_005257115.2:n.*55_*58delinsCGGA
XM_005257059.4:c.*55_*58delinsCGGA	XP_005257116.2:n.*55_*58delinsCGGA
NM_000088.4:c.*55_*58delinsCGGA MANE Select	NP_000079.2:n.*55_*58delinsCGGA