Canonical Allele Identifier: CA2263918862

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195684_50195686delinsCAT , CM000679.2:g.50195684_50195686delinsCAT	GRCh38
NC_000017.10:g.48273045_48273047delinsCAT , CM000679.1:g.48273045_48273047delinsCAT	GRCh37
NC_000017.9:g.45628044_45628046delinsCAT	NCBI36
NG_007400.1:g.10954_10956delinsATG , LRG_1:g.10954_10956delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1057-21_1057-19delinsATG MANE Select	ENSP00000225964.6:n.1057-21_1057-19delinsATG
ENST00000225964.9:c.1057-21_1057-19delinsATG	ENSP00000225964.5:n.1057-21_1057-19delinsATG
NM_000088.3:c.1057-21_1057-19delinsATG , LRG_1t1:c.1057-21_1057-19delinsATG	NP_000079.2:n.1057-21_1057-19delinsATG
XM_005257058.3:c.1057-21_1057-19delinsATG	XP_005257115.2:n.1057-21_1057-19delinsATG
XM_005257059.3:c.957+628_957+630delinsATG	XP_005257116.2:n.957+628_957+630delinsATG
XM_011524341.1:c.958-208_958-206delinsATG	XP_011522643.1:n.958-208_958-206delinsATG
XM_005257058.4:c.1057-21_1057-19delinsATG	XP_005257115.2:n.1057-21_1057-19delinsATG
XM_005257059.4:c.957+628_957+630delinsATG	XP_005257116.2:n.957+628_957+630delinsATG
NM_000088.4:c.1057-21_1057-19delinsATG MANE Select	NP_000079.2:n.1057-21_1057-19delinsATG