Canonical Allele Identifier: CA2638709497

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193166-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193171del , CM000679.2:g.50193171del	GRCh38
NC_000017.10:g.48270532del , CM000679.1:g.48270532del	GRCh37
NC_000017.9:g.45625531del	NCBI36
NG_007400.1:g.13473del , LRG_1:g.13473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-120del MANE Select	ENSP00000225964.6:n.1768-120del
ENST00000225964.9:c.1768-120del	ENSP00000225964.5:n.1768-120del
ENST00000476387.1:n.117-120del
NM_000088.3:c.1768-120del , LRG_1t1:c.1768-120del	NP_000079.2:n.1768-120del
XM_005257058.3:c.1768-120del	XP_005257115.2:n.1768-120del
XM_005257059.3:c.958-474del	XP_005257116.2:n.958-474del
XM_011524341.1:c.1570-120del	XP_011522643.1:n.1570-120del
XM_005257058.4:c.1768-120del	XP_005257115.2:n.1768-120del
XM_005257059.4:c.958-474del	XP_005257116.2:n.958-474del
NM_000088.4:c.1768-120del MANE Select	NP_000079.2:n.1768-120del