Canonical Allele Identifier: CA2263920361

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198642_50198643delinsTG , CM000679.2:g.50198642_50198643delinsTG	GRCh38
NC_000017.10:g.48276003_48276004delinsTG , CM000679.1:g.48276003_48276004delinsTG	GRCh37
NC_000017.9:g.45631002_45631003delinsTG	NCBI36
NG_007400.1:g.7997_7998delinsCA , LRG_1:g.7997_7998delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-139_472-138delinsCA MANE Select	ENSP00000225964.6:n.472-139_472-138delinsCA
ENST00000225964.9:c.472-139_472-138delinsCA	ENSP00000225964.5:n.472-139_472-138delinsCA
ENST00000495677.1:n.60_61delinsCA
NM_000088.3:c.472-139_472-138delinsCA , LRG_1t1:c.472-139_472-138delinsCA	NP_000079.2:n.472-139_472-138delinsCA
XM_005257058.3:c.472-139_472-138delinsCA	XP_005257115.2:n.472-139_472-138delinsCA
XM_005257059.3:c.472-139_472-138delinsCA	XP_005257116.2:n.472-139_472-138delinsCA
XM_011524341.1:c.472-139_472-138delinsCA	XP_011522643.1:n.472-139_472-138delinsCA
XM_005257058.4:c.472-139_472-138delinsCA	XP_005257115.2:n.472-139_472-138delinsCA
XM_005257059.4:c.472-139_472-138delinsCA	XP_005257116.2:n.472-139_472-138delinsCA
NM_000088.4:c.472-139_472-138delinsCA MANE Select	NP_000079.2:n.472-139_472-138delinsCA