Canonical Allele Identifier: CA2809757467

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196674_50196675insTCCTCG , CM000679.2:g.50196674_50196675insTCCTCG	GRCh38
NC_000017.10:g.48274035_48274036insTCCTCG , CM000679.1:g.48274035_48274036insTCCTCG	GRCh37
NC_000017.9:g.45629034_45629035insTCCTCG	NCBI36
NG_007400.1:g.9965_9966insCGAGGA , LRG_1:g.9965_9966insCGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-5_805-4insCGAGGA MANE Select	ENSP00000225964.6:n.805-5_805-4insCGAGGA
ENST00000225964.9:c.805-5_805-4insCGAGGA	ENSP00000225964.5:n.805-5_805-4insCGAGGA
ENST00000495677.1:n.532-5_532-4insCGAGGA
NM_000088.3:c.805-5_805-4insCGAGGA , LRG_1t1:c.805-5_805-4insCGAGGA	NP_000079.2:n.805-5_805-4insCGAGGA
XM_005257058.3:c.805-5_805-4insCGAGGA	XP_005257115.2:n.805-5_805-4insCGAGGA
XM_005257059.3:c.805-5_805-4insCGAGGA	XP_005257116.2:n.805-5_805-4insCGAGGA
XM_011524341.1:c.805-5_805-4insCGAGGA	XP_011522643.1:n.805-5_805-4insCGAGGA
XM_005257058.4:c.805-5_805-4insCGAGGA	XP_005257115.2:n.805-5_805-4insCGAGGA
XM_005257059.4:c.805-5_805-4insCGAGGA	XP_005257116.2:n.805-5_805-4insCGAGGA
NM_000088.4:c.805-5_805-4insCGAGGA MANE Select	NP_000079.2:n.805-5_805-4insCGAGGA