Canonical Allele Identifier: CA3968061

Gene: NT5DC1 COL10A1

Linked Data

• dbSNP Id: rs200192272
• ExAC: 6:116441227 T / TGG
• gnomAD v2: 6-116441227-T-TGG
• gnomAD v4: 6-116120064-T-TGG
• MyVariant Identifiers: chr6:g.116441227_116441228insGG (hg19) ; chr6:g.116120064_116120065insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116120065_116120066insGG , CM000668.2:g.116120065_116120066insGG	GRCh38
NC_000006.11:g.116441228_116441229insGG , CM000668.1:g.116441228_116441229insGG	GRCh37
NC_000006.10:g.116547921_116547922insGG	NCBI36
NG_008032.1:g.11069_11070insCC
NG_021351.1:g.24230_24231insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000319550.9:c.529+2120_529+2121insGG (NT5DC1) MANE Select	ENSP00000326858.3:n.529+2120_529+2121insG...
ENST00000651968.1:c.*8_*9insCC (COL10A1) MANE Select	ENSP00000498802.1:n.*8_*9insCC
ENST00000243222.8:c.*8_*9insCC (COL10A1)	ENSP00000243222.4:n.*8_*9insCC
ENST00000319550.8:c.529+2120_529+2121insGG (NT5DC1)	ENSP00000326858.3:n.529+2120_529+2121insG...
ENST00000327673.4:c.*8_*9insCC (COL10A1)	ENSP00000327368.4:n.*8_*9insCC
ENST00000419791.3:c.529+2120_529+2121insGG (NT5DC1)	ENSP00000393578.1:n.529+2120_529+2121insG...
ENST00000460749.1:c.27+2120_27+2121insGG (NT5DC1)
NM_000493.3:c.*8_*9insCC (COL10A1)	NP_000484.2:n.*8_*9insCC
NM_152729.2:c.529+2120_529+2121insGG (NT5DC1)	NP_689942.2:n.529+2120_529+2121insGG
XM_006715333.2:c.*8_*9insCC (COL10A1)	XP_006715396.1:n.*8_*9insCC
XM_006715377.2:c.529+2120_529+2121insGG (NT5DC1)	XP_006715440.1:n.529+2120_529+2121insGG
XM_006715378.2:c.529+2120_529+2121insGG (NT5DC1)	XP_006715441.1:n.529+2120_529+2121insGG
XM_011535432.1:c.*8_*9insCC (COL10A1)	XP_011533734.1:n.*8_*9insCC
XM_011535433.1:c.*8_*9insCC (COL10A1)	XP_011533735.1:n.*8_*9insCC
XM_006715333.3:c.*8_*9insCC (COL10A1)	XP_006715396.1:n.*8_*9insCC
XM_006715378.3:c.529+2120_529+2121insGG (NT5DC1)	XP_006715441.1:n.529+2120_529+2121insGG
XM_011535432.3:c.*8_*9insCC (COL10A1)	XP_011533734.1:n.*8_*9insCC
XM_011535433.3:c.*8_*9insCC (COL10A1)	XP_011533735.1:n.*8_*9insCC
XM_017010248.1:c.*8_*9insCC (COL10A1)	XP_016865737.1:n.*8_*9insCC
NM_000493.4:c.*8_*9insCC (COL10A1) MANE Select	NP_000484.2:n.*8_*9insCC
NM_152729.3:c.529+2120_529+2121insGG (NT5DC1) MANE Select	NP_689942.2:n.529+2120_529+2121insGG