Canonical Allele Identifier: CA2263917786

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193632_50193639delinsCCACCACA , CM000679.2:g.50193632_50193639delinsCCACCACA	GRCh38
NC_000017.10:g.48270993_48271000delinsCCACCACA , CM000679.1:g.48270993_48271000delinsCCACCACA	GRCh37
NC_000017.9:g.45625992_45625999delinsCCACCACA	NCBI36
NG_007400.1:g.13001_13008delinsTGTGGTGG , LRG_1:g.13001_13008delinsTGTGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+304_1767+311delinsTGTGGTGG MANE Select	ENSP00000225964.6:n.1767+304_1767+311delinsTGTGGTGG
ENST00000225964.9:c.1767+304_1767+311delinsTGTGGTGG	ENSP00000225964.5:n.1767+304_1767+311delinsTGTGGTGG
ENST00000463440.1:n.461_468delinsTGTGGTGG
ENST00000471344.1:n.1103_1110delinsTGTGGTGG
ENST00000476387.1:n.116+304_116+311delinsTGTGGTGG
NM_000088.3:c.1767+304_1767+311delinsTGTGGTGG , LRG_1t1:c.1767+304_1767+311delinsTGTGGTGG	NP_000079.2:n.1767+304_1767+311delinsTGTGGTGG
XM_005257058.3:c.1767+304_1767+311delinsTGTGGTGG	XP_005257115.2:n.1767+304_1767+311delinsTGTGGTGG
XM_005257059.3:c.958-946_958-939delinsTGTGGTGG	XP_005257116.2:n.958-946_958-939delinsTGTGGTGG
XM_011524341.1:c.1569+304_1569+311delinsTGTGGTGG	XP_011522643.1:n.1569+304_1569+311delinsTGTGGTGG
XM_005257058.4:c.1767+304_1767+311delinsTGTGGTGG	XP_005257115.2:n.1767+304_1767+311delinsTGTGGTGG
XM_005257059.4:c.958-946_958-939delinsTGTGGTGG	XP_005257116.2:n.958-946_958-939delinsTGTGGTGG
NM_000088.4:c.1767+304_1767+311delinsTGTGGTGG MANE Select	NP_000079.2:n.1767+304_1767+311delinsTGTGGTGG