Canonical Allele Identifier: CA2263915122

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188404_50188405delinsCA , CM000679.2:g.50188404_50188405delinsCA	GRCh38
NC_000017.10:g.48265765_48265766delinsCA , CM000679.1:g.48265765_48265766delinsCA	GRCh37
NC_000017.9:g.45620764_45620765delinsCA	NCBI36
NG_007400.1:g.18235_18236delinsTG , LRG_1:g.18235_18236delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+125_3207+126delinsTG MANE Select	ENSP00000225964.6:n.3207+125_3207+126delinsTG
ENST00000225964.9:c.3207+125_3207+126delinsTG	ENSP00000225964.5:n.3207+125_3207+126delinsTG
ENST00000486572.1:n.150_151delinsTG
ENST00000511732.1:n.276_277delinsTG
NM_000088.3:c.3207+125_3207+126delinsTG , LRG_1t1:c.3207+125_3207+126delinsTG	NP_000079.2:n.3207+125_3207+126delinsTG
XM_005257058.3:c.2937+125_2937+126delinsTG	XP_005257115.2:n.2937+125_2937+126delinsTG
XM_005257059.3:c.2289+125_2289+126delinsTG	XP_005257116.2:n.2289+125_2289+126delinsTG
XM_011524341.1:c.3009+125_3009+126delinsTG	XP_011522643.1:n.3009+125_3009+126delinsTG
XM_005257058.4:c.2937+125_2937+126delinsTG	XP_005257115.2:n.2937+125_2937+126delinsTG
XM_005257059.4:c.2289+125_2289+126delinsTG	XP_005257116.2:n.2289+125_2289+126delinsTG
NM_000088.4:c.3207+125_3207+126delinsTG MANE Select	NP_000079.2:n.3207+125_3207+126delinsTG