Canonical Allele Identifier: CA2263917315

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192542_50192544delinsATG , CM000679.2:g.50192542_50192544delinsATG	GRCh38
NC_000017.10:g.48269903_48269905delinsATG , CM000679.1:g.48269903_48269905delinsATG	GRCh37
NC_000017.9:g.45624902_45624904delinsATG	NCBI36
NG_007400.1:g.14096_14098delinsCAT , LRG_1:g.14096_14098delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930-16_1930-14delinsCAT MANE Select	ENSP00000225964.6:n.1930-16_1930-14delins...
ENST00000225964.9:c.1930-16_1930-14delinsCAT	ENSP00000225964.5:n.1930-16_1930-14delins...
ENST00000476387.1:n.279-16_279-14delinsCAT
NM_000088.3:c.1930-16_1930-14delinsCAT , LRG_1t1:c.1930-16_1930-14delinsCAT	NP_000079.2:n.1930-16_1930-14delinsCAT
XM_005257058.3:c.1930-16_1930-14delinsCAT	XP_005257115.2:n.1930-16_1930-14delinsCAT...
XM_005257059.3:c.1012-16_1012-14delinsCAT	XP_005257116.2:n.1012-16_1012-14delinsCAT...
XM_011524341.1:c.1732-16_1732-14delinsCAT	XP_011522643.1:n.1732-16_1732-14delinsCAT...
XM_005257058.4:c.1930-16_1930-14delinsCAT	XP_005257115.2:n.1930-16_1930-14delinsCAT...
XM_005257059.4:c.1012-16_1012-14delinsCAT	XP_005257116.2:n.1012-16_1012-14delinsCAT...
NM_000088.4:c.1930-16_1930-14delinsCAT MANE Select	NP_000079.2:n.1930-16_1930-14delinsCAT