Canonical Allele Identifier: CA2809757383

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193150_50193151del , CM000679.2:g.50193150_50193151del	GRCh38
NC_000017.10:g.48270511_48270512del , CM000679.1:g.48270511_48270512del	GRCh37
NC_000017.9:g.45625510_45625511del	NCBI36
NG_007400.1:g.13491_13492del , LRG_1:g.13491_13492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-102_1768-101del MANE Select	ENSP00000225964.6:n.1768-102_1768-101del
ENST00000225964.9:c.1768-102_1768-101del	ENSP00000225964.5:n.1768-102_1768-101del
ENST00000476387.1:n.117-102_117-101del
NM_000088.3:c.1768-102_1768-101del , LRG_1t1:c.1768-102_1768-101del	NP_000079.2:n.1768-102_1768-101del
XM_005257058.3:c.1768-102_1768-101del	XP_005257115.2:n.1768-102_1768-101del
XM_005257059.3:c.958-456_958-455del	XP_005257116.2:n.958-456_958-455del
XM_011524341.1:c.1570-102_1570-101del	XP_011522643.1:n.1570-102_1570-101del
XM_005257058.4:c.1768-102_1768-101del	XP_005257115.2:n.1768-102_1768-101del
XM_005257059.4:c.958-456_958-455del	XP_005257116.2:n.958-456_958-455del
NM_000088.4:c.1768-102_1768-101del MANE Select	NP_000079.2:n.1768-102_1768-101del