Canonical Allele Identifier: CA2263913629

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185451_50185452delinsTG , CM000679.2:g.50185451_50185452delinsTG	GRCh38
NC_000017.10:g.48262812_48262813delinsTG , CM000679.1:g.48262812_48262813delinsTG	GRCh37
NC_000017.9:g.45617811_45617812delinsTG	NCBI36
NG_007400.1:g.21188_21189delinsCA , LRG_1:g.21188_21189delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*50_*51delinsCA MANE Select	ENSP00000225964.6:n.*50_*51delinsCA
ENST00000225964.9:c.*50_*51delinsCA	ENSP00000225964.5:n.*50_*51delinsCA
NM_000088.3:c.*50_*51delinsCA , LRG_1t1:c.*50_*51delinsCA	NP_000079.2:n.*50_*51delinsCA
XM_005257058.3:c.*50_*51delinsCA	XP_005257115.2:n.*50_*51delinsCA
XM_005257059.3:c.*50_*51delinsCA	XP_005257116.2:n.*50_*51delinsCA
XM_011524341.1:c.*50_*51delinsCA	XP_011522643.1:n.*50_*51delinsCA
XM_005257058.4:c.*50_*51delinsCA	XP_005257115.2:n.*50_*51delinsCA
XM_005257059.4:c.*50_*51delinsCA	XP_005257116.2:n.*50_*51delinsCA
NM_000088.4:c.*50_*51delinsCA MANE Select	NP_000079.2:n.*50_*51delinsCA