Canonical Allele Identifier: CA2263915110

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188382_50188383delinsGT , CM000679.2:g.50188382_50188383delinsGT	GRCh38
NC_000017.10:g.48265743_48265744delinsGT , CM000679.1:g.48265743_48265744delinsGT	GRCh37
NC_000017.9:g.45620742_45620743delinsGT	NCBI36
NG_007400.1:g.18257_18258delinsAC , LRG_1:g.18257_18258delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+147_3207+148delinsAC MANE Select	ENSP00000225964.6:n.3207+147_3207+148delinsAC
ENST00000225964.9:c.3207+147_3207+148delinsAC	ENSP00000225964.5:n.3207+147_3207+148delinsAC
ENST00000486572.1:n.172_173delinsAC
ENST00000511732.1:n.298_299delinsAC
NM_000088.3:c.3207+147_3207+148delinsAC , LRG_1t1:c.3207+147_3207+148delinsAC	NP_000079.2:n.3207+147_3207+148delinsAC
XM_005257058.3:c.2937+147_2937+148delinsAC	XP_005257115.2:n.2937+147_2937+148delinsAC
XM_005257059.3:c.2289+147_2289+148delinsAC	XP_005257116.2:n.2289+147_2289+148delinsAC
XM_011524341.1:c.3009+147_3009+148delinsAC	XP_011522643.1:n.3009+147_3009+148delinsAC
XM_005257058.4:c.2937+147_2937+148delinsAC	XP_005257115.2:n.2937+147_2937+148delinsAC
XM_005257059.4:c.2289+147_2289+148delinsAC	XP_005257116.2:n.2289+147_2289+148delinsAC
NM_000088.4:c.3207+147_3207+148delinsAC MANE Select	NP_000079.2:n.3207+147_3207+148delinsAC