Canonical Allele Identifier: CA2739291028

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196630_50196638del , CM000679.2:g.50196630_50196638del	GRCh38
NC_000017.10:g.48273991_48273999del , CM000679.1:g.48273991_48273999del	GRCh37
NC_000017.9:g.45628990_45628998del	NCBI36
NG_007400.1:g.10012_10020del , LRG_1:g.10012_10020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.847_855del MANE Select	ENSP00000225964.6:p.Ala283_Pro285del
ENST00000225964.9:c.847_855del	ENSP00000225964.5:p.Ala283_Pro285del
ENST00000495677.1:n.574_582del
NM_000088.3:c.847_855del , LRG_1t1:c.847_855del	NP_000079.2:p.Ala283_Pro285del
XM_005257058.3:c.847_855del	XP_005257115.2:p.Ala283_Pro285del
XM_005257059.3:c.847_855del	XP_005257116.2:p.Ala283_Pro285del
XM_011524341.1:c.847_855del	XP_011522643.1:p.Ala283_Pro285del
XM_005257058.4:c.847_855del	XP_005257115.2:p.Ala283_Pro285del
XM_005257059.4:c.847_855del	XP_005257116.2:p.Ala283_Pro285del
NM_000088.4:c.847_855del MANE Select	NP_000079.2:p.Ala283_Pro285del