Canonical Allele Identifier: CA2695226464

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188126_50188127del , CM000679.2:g.50188126_50188127del	GRCh38
NC_000017.10:g.48265487_48265488del , CM000679.1:g.48265487_48265488del	GRCh37
NC_000017.9:g.45620486_45620487del	NCBI36
NG_007400.1:g.18513_18514del , LRG_1:g.18513_18514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3230_3231del MANE Select	ENSP00000225964.6:p.Pro1077ArgfsTer18
ENST00000225964.9:c.3230_3231del	ENSP00000225964.5:p.Pro1077ArgfsTer18
ENST00000486572.1:n.428_429del
ENST00000511732.1:n.554_555del
NM_000088.3:c.3230_3231del , LRG_1t1:c.3230_3231del	NP_000079.2:p.Pro1077ArgfsTer18
XM_005257058.3:c.2960_2961del	XP_005257115.2:p.Pro987ArgfsTer18
XM_005257059.3:c.2312_2313del	XP_005257116.2:p.Pro771ArgfsTer18
XM_011524341.1:c.3032_3033del	XP_011522643.1:p.Pro1011ArgfsTer18
XM_005257058.4:c.2960_2961del	XP_005257115.2:p.Pro987ArgfsTer18
XM_005257059.4:c.2312_2313del	XP_005257116.2:p.Pro771ArgfsTer18
NM_000088.4:c.3230_3231del MANE Select	NP_000079.2:p.Pro1077ArgfsTer18