Canonical Allele Identifier: CA2263913696

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185534_50185539delinsCGAATT , CM000679.2:g.50185534_50185539delinsCGAATT	GRCh38
NC_000017.10:g.48262895_48262900delinsCGAATT , CM000679.1:g.48262895_48262900delinsCGAATT	GRCh37
NC_000017.9:g.45617894_45617899delinsCGAATT	NCBI36
NG_007400.1:g.21101_21106delinsAATTCG , LRG_1:g.21101_21106delinsAATTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4358_4363delinsAATTCG MANE Select	ENSP00000225964.6:p.Glu1453=
ENST00000225964.9:c.4358_4363delinsAATTCG	ENSP00000225964.5:p.Glu1453=
NM_000088.3:c.4358_4363delinsAATTCG , LRG_1t1:c.4358_4363delinsAATTCG	NP_000079.2:p.Glu1453=
XM_005257058.3:c.4088_4093delinsAATTCG	XP_005257115.2:p.Glu1363=
XM_005257059.3:c.3440_3445delinsAATTCG	XP_005257116.2:p.Glu1147=
XM_011524341.1:c.4160_4165delinsAATTCG	XP_011522643.1:p.Glu1387=
XM_005257058.4:c.4088_4093delinsAATTCG	XP_005257115.2:p.Glu1363=
XM_005257059.4:c.3440_3445delinsAATTCG	XP_005257116.2:p.Glu1147=
NM_000088.4:c.4358_4363delinsAATTCG MANE Select	NP_000079.2:p.Glu1453=