Canonical Allele Identifier: CA2263919026

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196003_50196007delinsAGAAG , CM000679.2:g.50196003_50196007delinsAGAAG	GRCh38
NC_000017.10:g.48273364_48273368delinsAGAAG , CM000679.1:g.48273364_48273368delinsAGAAG	GRCh37
NC_000017.9:g.45628363_45628367delinsAGAAG	NCBI36
NG_007400.1:g.10633_10637delinsCTTCT , LRG_1:g.10633_10637delinsCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-31_1003-27delinsCTTCT MANE Select	ENSP00000225964.6:n.1003-31_1003-27delinsCTTCT
ENST00000225964.9:c.1003-31_1003-27delinsCTTCT	ENSP00000225964.5:n.1003-31_1003-27delinsCTTCT
NM_000088.3:c.1003-31_1003-27delinsCTTCT , LRG_1t1:c.1003-31_1003-27delinsCTTCT	NP_000079.2:n.1003-31_1003-27delinsCTTCT
XM_005257058.3:c.1003-31_1003-27delinsCTTCT	XP_005257115.2:n.1003-31_1003-27delinsCTTCT
XM_005257059.3:c.957+307_957+311delinsCTTCT	XP_005257116.2:n.957+307_957+311delinsCTTCT
XM_011524341.1:c.957+307_957+311delinsCTTCT	XP_011522643.1:n.957+307_957+311delinsCTTCT
XM_005257058.4:c.1003-31_1003-27delinsCTTCT	XP_005257115.2:n.1003-31_1003-27delinsCTTCT
XM_005257059.4:c.957+307_957+311delinsCTTCT	XP_005257116.2:n.957+307_957+311delinsCTTCT
NM_000088.4:c.1003-31_1003-27delinsCTTCT MANE Select	NP_000079.2:n.1003-31_1003-27delinsCTTCT