Canonical Allele Identifier: CA2263917787

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907301010
• gnomAD v4: 17-50193632-CCACCACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193634_50193640del , CM000679.2:g.50193634_50193640del	GRCh38
NC_000017.10:g.48270995_48271001del , CM000679.1:g.48270995_48271001del	GRCh37
NC_000017.9:g.45625994_45626000del	NCBI36
NG_007400.1:g.13001_13007del , LRG_1:g.13001_13007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+304_1767+310del MANE Select	ENSP00000225964.6:n.1767+304_1767+310del
ENST00000225964.9:c.1767+304_1767+310del	ENSP00000225964.5:n.1767+304_1767+310del
ENST00000463440.1:n.461_467del
ENST00000471344.1:n.1103_1109del
ENST00000476387.1:n.116+304_116+310del
NM_000088.3:c.1767+304_1767+310del , LRG_1t1:c.1767+304_1767+310del	NP_000079.2:n.1767+304_1767+310del
XM_005257058.3:c.1767+304_1767+310del	XP_005257115.2:n.1767+304_1767+310del
XM_005257059.3:c.958-946_958-940del	XP_005257116.2:n.958-946_958-940del
XM_011524341.1:c.1569+304_1569+310del	XP_011522643.1:n.1569+304_1569+310del
XM_005257058.4:c.1767+304_1767+310del	XP_005257115.2:n.1767+304_1767+310del
XM_005257059.4:c.958-946_958-940del	XP_005257116.2:n.958-946_958-940del
NM_000088.4:c.1767+304_1767+310del MANE Select	NP_000079.2:n.1767+304_1767+310del