Canonical Allele Identifier: CA2263918917

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907530738

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195809_50195810del , CM000679.2:g.50195809_50195810del	GRCh38
NC_000017.10:g.48273170_48273171del , CM000679.1:g.48273170_48273171del	GRCh37
NC_000017.9:g.45628169_45628170del	NCBI36
NG_007400.1:g.10832_10833del , LRG_1:g.10832_10833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+115_1056+116del MANE Select	ENSP00000225964.6:n.1056+115_1056+116del
ENST00000225964.9:c.1056+115_1056+116del	ENSP00000225964.5:n.1056+115_1056+116del
NM_000088.3:c.1056+115_1056+116del , LRG_1t1:c.1056+115_1056+116del	NP_000079.2:n.1056+115_1056+116del
XM_005257058.3:c.1056+115_1056+116del	XP_005257115.2:n.1056+115_1056+116del
XM_005257059.3:c.957+506_957+507del	XP_005257116.2:n.957+506_957+507del
XM_011524341.1:c.958-330_958-329del	XP_011522643.1:n.958-330_958-329del
XM_005257058.4:c.1056+115_1056+116del	XP_005257115.2:n.1056+115_1056+116del
XM_005257059.4:c.957+506_957+507del	XP_005257116.2:n.957+506_957+507del
NM_000088.4:c.1056+115_1056+116del MANE Select	NP_000079.2:n.1056+115_1056+116del