Canonical Allele Identifier: CA1657098018

Gene: NT5DC1 COL10A1

Linked Data

• dbSNP Id: rs1779437175

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116130678_116130682del , CM000668.2:g.116130678_116130682del	GRCh38
NC_000006.11:g.116451841_116451845del , CM000668.1:g.116451841_116451845del	GRCh37
NC_000006.10:g.116558534_116558538del	NCBI36
NG_008032.1:g.455_459del
NG_021351.1:g.34843_34847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319550.9:c.529+12733_529+12737del (NT5DC1) MANE Select	ENSP00000326858.3:n.529+12733_529+12737del
ENST00000319550.8:c.529+12733_529+12737del (NT5DC1)	ENSP00000326858.3:n.529+12733_529+12737del
ENST00000418500.1:c.-15-5172_-15-5168del (COL10A1)	ENSP00000392712.1:n.-15-5172_-15-5168del
ENST00000419791.3:c.529+12733_529+12737del (NT5DC1)	ENSP00000393578.1:n.529+12733_529+12737del
ENST00000460749.1:c.27+12733_27+12737del (NT5DC1)
NM_152729.2:c.529+12733_529+12737del (NT5DC1)	NP_689942.2:n.529+12733_529+12737del
XM_006715333.2:c.-15-5172_-15-5168del (COL10A1)	XP_006715396.1:n.-15-5172_-15-5168del
XM_006715377.2:c.529+12733_529+12737del (NT5DC1)	XP_006715440.1:n.529+12733_529+12737del
XM_006715378.2:c.529+12733_529+12737del (NT5DC1)	XP_006715441.1:n.529+12733_529+12737del
XM_011535432.1:c.-15-5172_-15-5168del (COL10A1)	XP_011533734.1:n.-15-5172_-15-5168del
XM_011535433.1:c.-15-5172_-15-5168del (COL10A1)	XP_011533735.1:n.-15-5172_-15-5168del
XM_006715333.3:c.-15-5172_-15-5168del (COL10A1)	XP_006715396.1:n.-15-5172_-15-5168del
XM_006715378.3:c.529+12733_529+12737del (NT5DC1)	XP_006715441.1:n.529+12733_529+12737del
XM_011535432.3:c.-15-5172_-15-5168del (COL10A1)	XP_011533734.1:n.-15-5172_-15-5168del
XM_011535433.3:c.-15-5172_-15-5168del (COL10A1)	XP_011533735.1:n.-15-5172_-15-5168del
NM_152729.3:c.529+12733_529+12737del (NT5DC1) MANE Select	NP_689942.2:n.529+12733_529+12737del