Canonical Allele Identifier: CA2580617326

Gene: NT5DC1 COL10A1

Linked Data

• ClinVar Variation Id: 1679893
• ClinVar RCV Id: RCV002227909
• dbSNP Id: rs2114276983

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116120167_116120168dup , CM000668.2:g.116120167_116120168dup	GRCh38
NC_000006.11:g.116441330_116441331dup , CM000668.1:g.116441330_116441331dup	GRCh37
NC_000006.10:g.116548023_116548024dup	NCBI36
NG_008032.1:g.10969_10970dup
NG_021351.1:g.24332_24333dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000319550.9:c.529+2222_529+2223dup (NT5DC1) MANE Select	ENSP00000326858.3:n.529+2222_529+2223dup
ENST00000651968.1:c.1951_1952dup (COL10A1) MANE Select	ENSP00000498802.1:p.Trp651CysfsTer27
ENST00000243222.8:c.1951_1952dup (COL10A1)	ENSP00000243222.4:p.Trp651CysfsTer27
ENST00000319550.8:c.529+2222_529+2223dup (NT5DC1)	ENSP00000326858.3:n.529+2222_529+2223dup
ENST00000327673.4:c.1951_1952dup (COL10A1)	ENSP00000327368.4:p.Trp651CysfsTer27
ENST00000419791.3:c.529+2222_529+2223dup (NT5DC1)	ENSP00000393578.1:n.529+2222_529+2223dup
ENST00000460749.1:c.27+2222_27+2223dup (NT5DC1)
NM_000493.3:c.1951_1952dup (COL10A1)	NP_000484.2:p.Trp651CysfsTer27
NM_152729.2:c.529+2222_529+2223dup (NT5DC1)	NP_689942.2:n.529+2222_529+2223dup
XM_006715333.2:c.1951_1952dup (COL10A1)	XP_006715396.1:p.Trp651CysfsTer27
XM_006715377.2:c.529+2222_529+2223dup (NT5DC1)	XP_006715440.1:n.529+2222_529+2223dup
XM_006715378.2:c.529+2222_529+2223dup (NT5DC1)	XP_006715441.1:n.529+2222_529+2223dup
XM_011535432.1:c.1951_1952dup (COL10A1)	XP_011533734.1:p.Trp651CysfsTer27
XM_011535433.1:c.1951_1952dup (COL10A1)	XP_011533735.1:p.Trp651CysfsTer27
XM_006715333.3:c.1951_1952dup (COL10A1)	XP_006715396.1:p.Trp651CysfsTer27
XM_006715378.3:c.529+2222_529+2223dup (NT5DC1)	XP_006715441.1:n.529+2222_529+2223dup
XM_011535432.3:c.1951_1952dup (COL10A1)	XP_011533734.1:p.Trp651CysfsTer27
XM_011535433.3:c.1951_1952dup (COL10A1)	XP_011533735.1:p.Trp651CysfsTer27
XM_017010248.1:c.1951_1952dup (COL10A1)	XP_016865737.1:p.Trp651CysfsTer27
NM_000493.4:c.1951_1952dup (COL10A1) MANE Select	NP_000484.2:p.Trp651CysfsTer27
NM_152729.3:c.529+2222_529+2223dup (NT5DC1) MANE Select	NP_689942.2:n.529+2222_529+2223dup