Canonical Allele Identifier: CA2638710259

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194516-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194522_50194524del , CM000679.2:g.50194522_50194524del	GRCh38
NC_000017.10:g.48271883_48271885del , CM000679.1:g.48271883_48271885del	GRCh37
NC_000017.9:g.45626882_45626884del	NCBI36
NG_007400.1:g.12121_12123del , LRG_1:g.12121_12123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+54_1515+56del MANE Select	ENSP00000225964.6:n.1515+54_1515+56del
ENST00000225964.9:c.1515+54_1515+56del	ENSP00000225964.5:n.1515+54_1515+56del
ENST00000471344.1:n.459+54_459+56del
NM_000088.3:c.1515+54_1515+56del , LRG_1t1:c.1515+54_1515+56del	NP_000079.2:n.1515+54_1515+56del
XM_005257058.3:c.1515+54_1515+56del	XP_005257115.2:n.1515+54_1515+56del
XM_005257059.3:c.957+1795_957+1797del	XP_005257116.2:n.957+1795_957+1797del
XM_011524341.1:c.1317+54_1317+56del	XP_011522643.1:n.1317+54_1317+56del
XM_005257058.4:c.1515+54_1515+56del	XP_005257115.2:n.1515+54_1515+56del
XM_005257059.4:c.957+1795_957+1797del	XP_005257116.2:n.957+1795_957+1797del
NM_000088.4:c.1515+54_1515+56del MANE Select	NP_000079.2:n.1515+54_1515+56del