Canonical Allele Identifier: CA2263915183

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188527_50188529delinsTAC , CM000679.2:g.50188527_50188529delinsTAC	GRCh38
NC_000017.10:g.48265888_48265890delinsTAC , CM000679.1:g.48265888_48265890delinsTAC	GRCh37
NC_000017.9:g.45620887_45620889delinsTAC	NCBI36
NG_007400.1:g.18111_18113delinsGTA , LRG_1:g.18111_18113delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+1_3207+3delinsGTA MANE Select	ENSP00000225964.6:n.3207+1_3207+3delinsGTA
ENST00000225964.9:c.3207+1_3207+3delinsGTA	ENSP00000225964.5:n.3207+1_3207+3delinsGTA
ENST00000486572.1:n.26_28delinsGTA
ENST00000511732.1:n.152_154delinsGTA
NM_000088.3:c.3207+1_3207+3delinsGTA , LRG_1t1:c.3207+1_3207+3delinsGTA	NP_000079.2:n.3207+1_3207+3delinsGTA
XM_005257058.3:c.2937+1_2937+3delinsGTA	XP_005257115.2:n.2937+1_2937+3delinsGTA
XM_005257059.3:c.2289+1_2289+3delinsGTA	XP_005257116.2:n.2289+1_2289+3delinsGTA
XM_011524341.1:c.3009+1_3009+3delinsGTA	XP_011522643.1:n.3009+1_3009+3delinsGTA
XM_005257058.4:c.2937+1_2937+3delinsGTA	XP_005257115.2:n.2937+1_2937+3delinsGTA
XM_005257059.4:c.2289+1_2289+3delinsGTA	XP_005257116.2:n.2289+1_2289+3delinsGTA
NM_000088.4:c.3207+1_3207+3delinsGTA MANE Select	NP_000079.2:n.3207+1_3207+3delinsGTA