Canonical Allele Identifier: CA2263915703

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189520_50189521delinsCA , CM000679.2:g.50189520_50189521delinsCA	GRCh38
NC_000017.10:g.48266881_48266882delinsCA , CM000679.1:g.48266881_48266882delinsCA	GRCh37
NC_000017.9:g.45621880_45621881delinsCA	NCBI36
NG_007400.1:g.17119_17120delinsTG , LRG_1:g.17119_17120delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2685_2686delinsTG MANE Select	ENSP00000225964.6:p.Pro895=
ENST00000225964.9:c.2685_2686delinsTG	ENSP00000225964.5:p.Pro895=
NM_000088.3:c.2685_2686delinsTG , LRG_1t1:c.2685_2686delinsTG	NP_000079.2:p.Pro895=
XM_005257058.3:c.2667+158_2667+159delinsTG	XP_005257115.2:n.2667+158_2667+159delinsT...
XM_005257059.3:c.1767_1768delinsTG	XP_005257116.2:p.Pro589=
XM_011524341.1:c.2487_2488delinsTG	XP_011522643.1:p.Pro829=
XM_005257058.4:c.2667+158_2667+159delinsTG	XP_005257115.2:n.2667+158_2667+159delinsT...
XM_005257059.4:c.1767_1768delinsTG	XP_005257116.2:p.Pro589=
NM_000088.4:c.2685_2686delinsTG MANE Select	NP_000079.2:p.Pro895=