Canonical Allele Identifier: CA2695226683

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196169_50196174del , CM000679.2:g.50196169_50196174del	GRCh38
NC_000017.10:g.48273530_48273535del , CM000679.1:g.48273530_48273535del	GRCh37
NC_000017.9:g.45628529_45628534del	NCBI36
NG_007400.1:g.10469_10474del , LRG_1:g.10469_10474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.986_991del MANE Select	ENSP00000225964.6:p.Gly329_Ala330del
ENST00000225964.9:c.986_991del	ENSP00000225964.5:p.Gly329_Ala330del
ENST00000485870.1:n.311_316del
NM_000088.3:c.986_991del , LRG_1t1:c.986_991del	NP_000079.2:p.Gly329_Ala330del
XM_005257058.3:c.986_991del	XP_005257115.2:p.Gly329_Ala330del
XM_005257059.3:c.957+143_957+148del	XP_005257116.2:n.957+143_957+148del
XM_011524341.1:c.957+143_957+148del	XP_011522643.1:n.957+143_957+148del
XM_005257058.4:c.986_991del	XP_005257115.2:p.Gly329_Ala330del
XM_005257059.4:c.957+143_957+148del	XP_005257116.2:n.957+143_957+148del
NM_000088.4:c.986_991del MANE Select	NP_000079.2:p.Gly329_Ala330del